nsv6314399

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:complex chromosomal rearrangement
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:21
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:46;XY;inv(5)(q13q15)dn AND multiple conditions
Publication(s):Redin et al. 2016

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 74 SVs from 18 studies. See in: genome view

Remapped(Score: Perfect):63,208,988-63,208,988

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	63,208,988	63,208,988	+
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	63,208,989	63,208,989	+
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	64,298,033	64,298,033	+
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	64,374,744	64,374,744	-
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	65,296,018	65,296,018	-
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	65,296,019	65,296,019	-
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	65,296,137	65,296,137	-
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	65,640,753	65,640,753	-
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	65,640,754	65,640,754	-
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	67,144,921	67,144,921	-
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	67,144,921	67,144,921	-
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	67,752,723	67,752,723	-
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	67,787,334	67,787,334	-
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	67,787,674	67,787,674	+
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	68,738,205	68,738,205	-
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	68,738,206	68,738,206	+
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	75,993,137	75,993,137	+
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	75,993,141	75,993,141	-
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	84,253,624	84,253,624	-
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	84,253,629	84,253,629	+
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	85,236,998	85,236,998	-
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	85,236,999	85,236,999	+
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	85,466,316	85,466,316	+
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	85,466,316	85,466,316	+
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	85,924,280	85,924,280	-
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	85,924,280	85,924,280	+
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	87,340,246	87,340,246	-
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	87,340,249	87,340,249	+
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	87,474,240	87,474,240	+
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	87,474,343	87,474,343	-
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	88,145,344	88,145,344	-
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	88,145,401	88,145,401	-
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	88,306,497	88,306,497	-
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	88,308,276	88,308,276	+
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	89,033,314	89,033,314	-
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	89,033,318	89,033,318	+
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	94,560,230	94,560,230	-
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	94,560,232	94,560,232	-
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	95,166,327	95,166,327	+
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	95,166,327	95,166,327	-
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	95,334,494	95,334,494	+
nsv6314399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	95,334,494	95,334,494	+
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	62,504,815	62,504,815	+
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	62,504,816	62,504,816	+
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	63,593,860	63,593,860	+
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	63,670,571	63,670,571	-
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	64,591,845	64,591,845	-
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	64,591,846	64,591,846	-
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	64,591,964	64,591,964	-
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	64,936,580	64,936,580	-
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	64,936,581	64,936,581	-
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	66,440,749	66,440,749	-
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	66,440,749	66,440,749	-
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	67,048,551	67,048,551	-
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	67,083,162	67,083,162	-
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	67,083,502	67,083,502	+
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	68,034,032	68,034,032	-
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	68,034,033	68,034,033	+
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	75,288,962	75,288,962	+
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	75,288,966	75,288,966	-
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	83,549,442	83,549,442	-
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	83,549,447	83,549,447	+
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	84,532,816	84,532,816	-
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	84,532,817	84,532,817	+
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	84,762,134	84,762,134	+
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	84,762,134	84,762,134	+
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	85,220,098	85,220,098	+
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	85,220,098	85,220,098	-
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	86,636,063	86,636,063	-
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	86,636,066	86,636,066	+
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	86,770,057	86,770,057	+
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	86,770,160	86,770,160	-
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	87,441,161	87,441,161	-
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	87,441,218	87,441,218	-
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	87,602,314	87,602,314	-
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	87,604,093	87,604,093	+
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	88,329,131	88,329,131	-
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	88,329,135	88,329,135	+
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	93,895,935	93,895,935	-
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	93,895,937	93,895,937	-
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	94,502,031	94,502,031	+
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	94,502,031	94,502,031	-
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	94,670,198	94,670,198	+
nsv6314399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	94,670,198	94,670,198	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975330	intrachromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975335	intrachromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975336	intrachromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975338	intrachromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975337	intrachromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975334	intrachromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975332	intrachromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975331	intrachromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975348	intrachromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975347	intrachromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975333	intrachromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975344	intrachromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975339	intrachromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975341	intrachromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975343	copy number loss	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975345	intrachromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975346	intrachromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975350	intrachromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975349	intrachromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975340	intrachromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975342	copy number loss	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975330	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	63,208,988	63,208,988	+
nssv17975335	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	63,208,989	63,208,989	+
nssv17975336	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	64,298,033	64,298,033	+
nssv17975338	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	64,374,744	64,374,744	-
nssv17975337	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	65,296,018	65,296,018	-
nssv17975334	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	65,296,019	65,296,019	-
nssv17975332	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	65,296,137	65,296,137	-
nssv17975331	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	65,640,753	65,640,753	-
nssv17975348	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	65,640,754	65,640,754	-
nssv17975335	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	67,144,921	67,144,921	-
nssv17975347	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	67,144,921	67,144,921	-
nssv17975334	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	67,752,723	67,752,723	-
nssv17975333	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	67,787,334	67,787,334	-
nssv17975332	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	67,787,674	67,787,674	+
nssv17975337	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	68,738,205	68,738,205	-
nssv17975333	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	68,738,206	68,738,206	+
nssv17975338	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	75,993,137	75,993,137	+
nssv17975336	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	75,993,141	75,993,141	-
nssv17975344	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	84,253,624	84,253,624	-
nssv17975339	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	84,253,629	84,253,629	+
nssv17975341	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	85,236,998	85,236,998	-
nssv17975344	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	85,236,999	85,236,999	+
nssv17975343	Remapped	Perfect	NC_000005.10:g.854 66316delNC_000005. 10:g.85924280del	GRCh38.p12	First Pass	NC_000005.10	Chr5	85,466,316	85,466,316
nssv17975345	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	85,466,316	85,466,316	+
nssv17975343	Remapped	Perfect	NC_000005.10:g.854 66316delNC_000005. 10:g.85924280del	GRCh38.p12	First Pass	NC_000005.10	Chr5	85,924,280	85,924,280
nssv17975347	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	85,924,280	85,924,280	-
nssv17975346	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	87,340,246	87,340,246	-
nssv17975330	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	87,340,249	87,340,249	+
nssv17975341	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	87,474,240	87,474,240	+
nssv17975350	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	87,474,343	87,474,343	-
nssv17975349	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	88,145,344	88,145,344	-
nssv17975346	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	88,145,401	88,145,401	-
nssv17975345	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	88,306,497	88,306,497	-
nssv17975350	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	88,308,276	88,308,276	+
nssv17975349	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	89,033,314	89,033,314	-
nssv17975331	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	89,033,318	89,033,318	+
nssv17975348	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	94,560,230	94,560,230	-
nssv17975340	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	94,560,232	94,560,232	-
nssv17975339	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	95,166,327	95,166,327	-
nssv17975342	Remapped	Perfect	NC_000005.10:g.951 66327delNC_000005. 10:g.95334494del	GRCh38.p12	First Pass	NC_000005.10	Chr5	95,166,327	95,166,327
nssv17975340	Remapped	Perfect		GRCh38.p12	First Pass	NC_000005.10	Chr5	95,334,494	95,334,494	+
nssv17975342	Remapped	Perfect	NC_000005.10:g.951 66327delNC_000005. 10:g.95334494del	GRCh38.p12	First Pass	NC_000005.10	Chr5	95,334,494	95,334,494
nssv17975330	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	62,504,815	62,504,815	+
nssv17975335	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	62,504,816	62,504,816	+
nssv17975336	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	63,593,860	63,593,860	+
nssv17975338	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	63,670,571	63,670,571	-
nssv17975337	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	64,591,845	64,591,845	-
nssv17975334	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	64,591,846	64,591,846	-
nssv17975332	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	64,591,964	64,591,964	-
nssv17975331	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	64,936,580	64,936,580	-
nssv17975348	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	64,936,581	64,936,581	-
nssv17975335	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	66,440,749	66,440,749	-
nssv17975347	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	66,440,749	66,440,749	-
nssv17975334	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	67,048,551	67,048,551	-
nssv17975333	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	67,083,162	67,083,162	-
nssv17975332	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	67,083,502	67,083,502	+
nssv17975337	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	68,034,032	68,034,032	-
nssv17975333	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	68,034,033	68,034,033	+
nssv17975338	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	75,288,962	75,288,962	+
nssv17975336	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	75,288,966	75,288,966	-
nssv17975344	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	83,549,442	83,549,442	-
nssv17975339	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	83,549,447	83,549,447	+
nssv17975341	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	84,532,816	84,532,816	-
nssv17975344	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	84,532,817	84,532,817	+
nssv17975343	Submitted genomic		NC_000005.9:g.8476 2134delNC_000005.9 :g.85220098del	GRCh37 (hg19)		NC_000005.9	Chr5	84,762,134	84,762,134
nssv17975345	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	84,762,134	84,762,134	+
nssv17975343	Submitted genomic		NC_000005.9:g.8476 2134delNC_000005.9 :g.85220098del	GRCh37 (hg19)		NC_000005.9	Chr5	85,220,098	85,220,098
nssv17975347	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	85,220,098	85,220,098	-
nssv17975346	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	86,636,063	86,636,063	-
nssv17975330	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	86,636,066	86,636,066	+
nssv17975341	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	86,770,057	86,770,057	+
nssv17975350	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	86,770,160	86,770,160	-
nssv17975349	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	87,441,161	87,441,161	-
nssv17975346	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	87,441,218	87,441,218	-
nssv17975345	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	87,602,314	87,602,314	-
nssv17975350	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	87,604,093	87,604,093	+
nssv17975349	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	88,329,131	88,329,131	-
nssv17975331	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	88,329,135	88,329,135	+
nssv17975348	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	93,895,935	93,895,935	-
nssv17975340	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	93,895,937	93,895,937	-
nssv17975339	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	94,502,031	94,502,031	-
nssv17975342	Submitted genomic		NC_000005.9:g.9450 2031delNC_000005.9 :g.94670198del	GRCh37 (hg19)		NC_000005.9	Chr5	94,502,031	94,502,031
nssv17975340	Submitted genomic			GRCh37 (hg19)		NC_000005.9	Chr5	94,670,198	94,670,198	+
nssv17975342	Submitted genomic		NC_000005.9:g.9450 2031delNC_000005.9 :g.94670198del	GRCh37 (hg19)		NC_000005.9	Chr5	94,670,198	94,670,198

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975330		intrachromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975335		intrachromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975336		intrachromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975338		intrachromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975337		intrachromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975334		intrachromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975332		intrachromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975331		intrachromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975348		intrachromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975347		intrachromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975333		intrachromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975344		intrachromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975339		intrachromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975341		intrachromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975343	GRCh37: NC_000005.9:g.84762134delNC_000005.9:g.85220098del	copy number loss	de novo	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975345		intrachromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975346		intrachromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975350		intrachromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975349		intrachromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975340		intrachromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1
nssv17975342	GRCh37: NC_000005.9:g.94502031delNC_000005.9:g.94670198del	copy number loss	de novo	Abnormal facial shape; Abnormal facial shape; Clinodactyly; Clinodactyly; Hirsutism; Hirsutism; Intellectual disability, severe; Intellectual disability, severe; Partial duplication of thumb phalanx; Partial duplication of thumb phalanx	Likely pathogenic	ClinVar	RCV000258560.1, VCV000267816.1

dbVar

Database of genomic structural variation

nsv6314399

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

Clinical Assertions

No genotype data were submitted for this variant