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

dbVar

Database of genomic structural variation

nsv6307594

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:1,195

Description:nsv5510197 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: 109 SVs from 31 studies. See in: genome view

Remapped(Score: Perfect):52,048,356-52,049,550

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6307594	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	52,048,356	52,049,550
nsv6307594	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	52,442,140	52,443,334

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17659399	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17659399	Remapped	Perfect	NC_000012.12:g.520 48356_52049550del	GRCh38.p12	First Pass	NC_000012.12	Chr12	52,048,356	52,049,550
nssv17659399	Submitted genomic		NC_000012.11:g.524 42140_52443334del	GRCh37 (hg19)		NC_000012.11	Chr12	52,442,140	52,443,334

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)
nssv17659399	0.031	196	6404

You are here: NCBI