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dbVar

Database of genomic structural variation

nsv6301325

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:330

Description:nsv5499659 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: 160 SVs from 22 studies. See in: genome view

Remapped(Score: Perfect):124,929,697-124,930,026

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6301325	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	124,929,697	124,930,026
nsv6301325	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	124,799,593	124,799,922

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17658544	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17658544	Remapped	Perfect	NC_000011.10:g.124 929697_124930026de l	GRCh38.p12	First Pass	NC_000011.10	Chr11	124,929,697	124,930,026
nssv17658544	Submitted genomic		NC_000011.9:g.1247 99593_124799922del	GRCh37 (hg19)		NC_000011.9	Chr11	124,799,593	124,799,922

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)
nssv17658544	0.502	3214	6404

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