Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv6113233

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:2,372

Description:nsv5424625 from Byrska-Bishop et. al 2021. For a full list of variants now included in nstd186, refer to the mapping file provided here.

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: 272 SVs from 34 studies. See in: genome view

Remapped(Score: Perfect):68,325,585-68,327,956

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6113233	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	68,325,585	68,327,956
nsv6113233	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	67,545,427	67,547,798

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17960957	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17960957	Remapped	Perfect	NC_000023.11:g.683 25585_68327956del	GRCh38.p12	First Pass	NC_000023.11	ChrX	68,325,585	68,327,956
nssv17960957	Submitted genomic		NC_000023.10:g.675 45427_67547798del	GRCh37 (hg19)		NC_000023.10	ChrX	67,545,427	67,547,798

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv17960957	0.068	433	6404

You are here: NCBI