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dbVar

Database of genomic structural variation

nsv6137764

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:340,862

Description:Single allele AND not provided

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: 774 SVs from 54 studies. See in: genome view

Remapped(Score: Perfect):31,627,663-31,968,524

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6137764	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	31,627,663	31,968,524
nsv6137764	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	31,645,780	31,986,641

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17683526	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001663746.2, VCV001256404.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17683526	Remapped	Perfect	NC_000023.11:g.(?_ 31627663)_(3196852 4_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	31,627,663	31,968,524
nssv17683526	Submitted genomic		NC_000023.10:g.(?_ 31645780)_(3198664 1_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	31,645,780	31,986,641

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
nssv17683526	GRCh37: NC_000023.10:g.(?_31645780)_(31986641_?)del	deletion	unknown	not provided	Pathogenic	ClinVar	RCV001663746.2, VCV001256404.2

No genotype data were submitted for this variant

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