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dbVar

Database of genomic structural variation

nsv6125669

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:1,548

Description:nsv5540702 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 38 studies. See in: genome view

Remapped(Score: Perfect):36,270,315-36,271,862

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6125669	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	36,270,315	36,271,862
nsv6125669	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	37,642,613	37,644,160

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17967840	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17967840	Remapped	Perfect	NC_000021.9:g.3627 0315_36271862del	GRCh38.p12	First Pass	NC_000021.9	Chr21	36,270,315	36,271,862
nssv17967840	Submitted genomic		NC_000021.8:g.3764 2613_37644160del	GRCh37 (hg19)		NC_000021.8	Chr21	37,642,613	37,644,160

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)
nssv17967840	0.01	67	6404

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