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dbVar

Database of genomic structural variation

nsv6314629

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:
46;X;t(X;9)(p22.2;p13)dn AND multiple conditions
Publication(s):Manickam et al. 2021, Michelson et al. 2011, Moeschler et al. 2014, Redin et al. 2016, Shao et al. 2021

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: 104 SVs from 33 studies. See in: genome view

Remapped(Score: Perfect):33,697,173-33,697,173

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314629	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	33,697,173	33,697,173	+
nsv6314629	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	33,697,181	33,697,181	+
nsv6314629	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	16,829,893	16,829,893	+
nsv6314629	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	16,829,894	16,829,894	+
nsv6314629	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	33,697,171	33,697,171	+
nsv6314629	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	33,697,179	33,697,179	+
nsv6314629	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	16,848,016	16,848,016	+
nsv6314629	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	16,848,017	16,848,017	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17968601	interchromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Atypical behavior; Behavioral abnormality; Global developmental delay; Global developmental delay; Hypopigmentation of the skin; Hypopigmentation of the skin; Hypotonia; Infantile spasms; Infantile spasms; Intellectual Disability; Intellectual disability; Intellectual disability; Mottled pigmentation; Mottled pigmentation; Muscular hypotonia; Myopia; Myopia; Myopia	Uncertain significance	ClinVar	RCV000258514.2, VCV000267813.1
nssv17968600	interchromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Atypical behavior; Behavioral abnormality; Global developmental delay; Global developmental delay; Hypopigmentation of the skin; Hypopigmentation of the skin; Hypotonia; Infantile spasms; Infantile spasms; Intellectual Disability; Intellectual disability; Intellectual disability; Mottled pigmentation; Mottled pigmentation; Muscular hypotonia; Myopia; Myopia; Myopia	Uncertain significance	ClinVar	RCV000258514.2, VCV000267813.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17968601	Remapped	Perfect	GRCh38.p12	First Pass	NC_000009.12	Chr9	33,697,173	33,697,173	+
nssv17968600	Remapped	Perfect	GRCh38.p12	First Pass	NC_000009.12	Chr9	33,697,181	33,697,181	+
nssv17968601	Remapped	Perfect	GRCh38.p12	First Pass	NC_000023.11	ChrX	16,829,893	16,829,893	+
nssv17968600	Remapped	Perfect	GRCh38.p12	First Pass	NC_000023.11	ChrX	16,829,894	16,829,894	+
nssv17968601	Submitted genomic		GRCh37 (hg19)		NC_000009.11	Chr9	33,697,171	33,697,171	+
nssv17968600	Submitted genomic		GRCh37 (hg19)		NC_000009.11	Chr9	33,697,179	33,697,179	+
nssv17968601	Submitted genomic		GRCh37 (hg19)		NC_000023.10	ChrX	16,848,016	16,848,016	+
nssv17968600	Submitted genomic		GRCh37 (hg19)		NC_000023.10	ChrX	16,848,017	16,848,017	+

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17968601	interchromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Atypical behavior; Behavioral abnormality; Global developmental delay; Global developmental delay; Hypopigmentation of the skin; Hypopigmentation of the skin; Hypotonia; Infantile spasms; Infantile spasms; Intellectual Disability; Intellectual disability; Intellectual disability; Mottled pigmentation; Mottled pigmentation; Muscular hypotonia; Myopia; Myopia; Myopia	Uncertain significance	ClinVar	RCV000258514.2, VCV000267813.1
nssv17968600	interchromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Atypical behavior; Behavioral abnormality; Global developmental delay; Global developmental delay; Hypopigmentation of the skin; Hypopigmentation of the skin; Hypotonia; Infantile spasms; Infantile spasms; Intellectual Disability; Intellectual disability; Intellectual disability; Mottled pigmentation; Mottled pigmentation; Muscular hypotonia; Myopia; Myopia; Myopia	Uncertain significance	ClinVar	RCV000258514.2, VCV000267813.1

No genotype data were submitted for this variant

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