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dbVar

Database of genomic structural variation

nsv6305002

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:57,395

Description:nsv5458027 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: 262 SVs from 41 studies. See in: genome view

Remapped(Score: Perfect):75,937,424-75,994,818

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6305002	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	75,937,424	75,994,818
nsv6305002	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	76,647,141	76,704,535

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17667894	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17667894	Remapped	Perfect	NC_000006.12:g.759 37424_75994818del	GRCh38.p12	First Pass	NC_000006.12	Chr6	75,937,424	75,994,818
nssv17667894	Submitted genomic		NC_000006.11:g.766 47141_76704535del	GRCh37 (hg19)		NC_000006.11	Chr6	76,647,141	76,704,535

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)
nssv17667894	0.338	2164	6404

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