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dbVar

Database of genomic structural variation

nsv6314596

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:
46;XX;t(6;15)(q23;q22)dn AND multiple conditions
Publication(s):Manickam et al. 2021, Michelson et al. 2011, 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: 79 SVs from 17 studies. See in: genome view

Remapped(Score: Perfect):137,249,696-137,249,696

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314596	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	137,249,696	137,249,696	+
nsv6314596	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	137,249,696	137,249,696	+
nsv6314596	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	140,515,210	140,515,210	+
nsv6314596	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	140,515,210	140,515,210	+
nsv6314596	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	72,499,360	72,499,360	+
nsv6314596	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	72,567,557	72,567,557	+
nsv6314596	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	137,570,833	137,570,833	+
nsv6314596	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	137,570,833	137,570,833	+
nsv6314596	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	140,836,347	140,836,347	+
nsv6314596	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	140,836,347	140,836,347	+
nsv6314596	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	72,791,701	72,791,701	+
nsv6314596	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	72,859,898	72,859,898	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976000	interchromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Anteverted nares; Anteverted nares; Cerebral calcification; Cerebral calcification; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; Growth delay; Growth delay; Hyperactivity; Hyperactivity; Midface retrusion; Midface retrusion; Short palpebral fissure; Short palpebral fissure; Speech articulation difficulties; Speech articulation difficulties; TELECANTHUS; Telecanthus; Telecanthus; Thin upper lip vermilion; Thin upper lip vermilion; Wide nasal bridge; Wide nasal bridge	Likely pathogenic	ClinVar	RCV000258773.2, VCV000267867.1
nssv17976004	copy number loss	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Anteverted nares; Anteverted nares; Cerebral calcification; Cerebral calcification; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; Growth delay; Growth delay; Hyperactivity; Hyperactivity; Midface retrusion; Midface retrusion; Short palpebral fissure; Short palpebral fissure; Speech articulation difficulties; Speech articulation difficulties; TELECANTHUS; Telecanthus; Telecanthus; Thin upper lip vermilion; Thin upper lip vermilion; Wide nasal bridge; Wide nasal bridge	Likely pathogenic	ClinVar	RCV000258773.2, VCV000267867.1
nssv17976003	interchromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Anteverted nares; Anteverted nares; Cerebral calcification; Cerebral calcification; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; Growth delay; Growth delay; Hyperactivity; Hyperactivity; Midface retrusion; Midface retrusion; Short palpebral fissure; Short palpebral fissure; Speech articulation difficulties; Speech articulation difficulties; TELECANTHUS; Telecanthus; Telecanthus; Thin upper lip vermilion; Thin upper lip vermilion; Wide nasal bridge; Wide nasal bridge	Likely pathogenic	ClinVar	RCV000258773.2, VCV000267867.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17976000	Remapped	Perfect		GRCh38.p12	First Pass	NC_000006.12	Chr6	137,249,696	137,249,696	+
nssv17976004	Remapped	Perfect	NC_000006.12:g.137 249696delNC_000006 .12:g.140515210del	GRCh38.p12	First Pass	NC_000006.12	Chr6	137,249,696	137,249,696
nssv17976003	Remapped	Perfect		GRCh38.p12	First Pass	NC_000006.12	Chr6	140,515,210	140,515,210	+
nssv17976004	Remapped	Perfect	NC_000006.12:g.137 249696delNC_000006 .12:g.140515210del	GRCh38.p12	First Pass	NC_000006.12	Chr6	140,515,210	140,515,210
nssv17976003	Remapped	Perfect		GRCh38.p12	First Pass	NC_000015.10	Chr15	72,499,360	72,499,360	+
nssv17976000	Remapped	Perfect		GRCh38.p12	First Pass	NC_000015.10	Chr15	72,567,557	72,567,557	+
nssv17976000	Submitted genomic			GRCh37 (hg19)		NC_000006.11	Chr6	137,570,833	137,570,833	+
nssv17976004	Submitted genomic		NC_000006.11:g.137 570833delNC_000006 .11:g.140836347del	GRCh37 (hg19)		NC_000006.11	Chr6	137,570,833	137,570,833
nssv17976003	Submitted genomic			GRCh37 (hg19)		NC_000006.11	Chr6	140,836,347	140,836,347	+
nssv17976004	Submitted genomic		NC_000006.11:g.137 570833delNC_000006 .11:g.140836347del	GRCh37 (hg19)		NC_000006.11	Chr6	140,836,347	140,836,347
nssv17976003	Submitted genomic			GRCh37 (hg19)		NC_000015.9	Chr15	72,791,701	72,791,701	+
nssv17976000	Submitted genomic			GRCh37 (hg19)		NC_000015.9	Chr15	72,859,898	72,859,898	+

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
nssv17976000		interchromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Anteverted nares; Anteverted nares; Cerebral calcification; Cerebral calcification; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; Growth delay; Growth delay; Hyperactivity; Hyperactivity; Midface retrusion; Midface retrusion; Short palpebral fissure; Short palpebral fissure; Speech articulation difficulties; Speech articulation difficulties; TELECANTHUS; Telecanthus; Telecanthus; Thin upper lip vermilion; Thin upper lip vermilion; Wide nasal bridge; Wide nasal bridge	Likely pathogenic	ClinVar	RCV000258773.2, VCV000267867.1
nssv17976004	GRCh37: NC_000006.11:g.137570833delNC_000006.11:g.140836347del	copy number loss	de novo	Abnormal facial shape; Abnormal facial shape; Anteverted nares; Anteverted nares; Cerebral calcification; Cerebral calcification; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; Growth delay; Growth delay; Hyperactivity; Hyperactivity; Midface retrusion; Midface retrusion; Short palpebral fissure; Short palpebral fissure; Speech articulation difficulties; Speech articulation difficulties; TELECANTHUS; Telecanthus; Telecanthus; Thin upper lip vermilion; Thin upper lip vermilion; Wide nasal bridge; Wide nasal bridge	Likely pathogenic	ClinVar	RCV000258773.2, VCV000267867.1
nssv17976003		interchromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Anteverted nares; Anteverted nares; Cerebral calcification; Cerebral calcification; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; Growth delay; Growth delay; Hyperactivity; Hyperactivity; Midface retrusion; Midface retrusion; Short palpebral fissure; Short palpebral fissure; Speech articulation difficulties; Speech articulation difficulties; TELECANTHUS; Telecanthus; Telecanthus; Thin upper lip vermilion; Thin upper lip vermilion; Wide nasal bridge; Wide nasal bridge	Likely pathogenic	ClinVar	RCV000258773.2, VCV000267867.1

No genotype data were submitted for this variant

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