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dbVar

Database of genomic structural variation

nsv6313189

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:69,123

Description:GRCh37/hg19 Xp21.1(chrX:32284109-32353231) AND not specified

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: 252 SVs from 39 studies. See in: genome view

Remapped(Score: Perfect):32,265,992-32,335,114

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6313189	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	32,265,992	32,335,114
nsv6313189	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	32,284,109	32,353,231

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17969341	copy number loss	Multiple	Multiple	not specified	Pathogenic	ClinVar	RCV002052805.3, VCV001526786.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17969341	Remapped	Perfect	NC_000023.11:g.(?_ 32265992)_(3233511 4_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	32,265,992	32,335,114
nssv17969341	Submitted genomic		NC_000023.10:g.(?_ 32284109)_(3235323 1_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	32,284,109	32,353,231

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
nssv17969341	GRCh37: NC_000023.10:g.(?_32284109)_(32353231_?)del	copy number loss	germline	not specified	Pathogenic	ClinVar	RCV002052805.3, VCV001526786.3

No genotype data were submitted for this variant

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