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

dbVar

Database of genomic structural variation

nsv6122142

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:316

Description:nsv5496910 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: 179 SVs from 45 studies. See in: genome view

Remapped(Score: Perfect):46,145,627-46,145,942

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6122142	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	46,145,627	46,145,942
nsv6122142	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	46,719,762	46,720,077

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17966533	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17966533	Remapped	Perfect	NC_000013.11:g.461 45627_46145942del	GRCh38.p12	First Pass	NC_000013.11	Chr13	46,145,627	46,145,942
nssv17966533	Submitted genomic		NC_000013.10:g.467 19762_46720077del	GRCh37 (hg19)		NC_000013.10	Chr13	46,719,762	46,720,077

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)
nssv17966533	0.245	1570	6404

You are here: NCBI