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dbVar

Database of genomic structural variation

nsv6124982

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:461

Description:nsv5524514 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: 116 SVs from 29 studies. See in: genome view

Remapped(Score: Perfect):52,345,949-52,346,409

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6124982	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	52,345,949	52,346,409
nsv6124982	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	52,849,202	52,849,662

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17967731	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17967731	Remapped	Perfect	NC_000019.10:g.523 45949_52346409del	GRCh38.p12	First Pass	NC_000019.10	Chr19	52,345,949	52,346,409
nssv17967731	Submitted genomic		NC_000019.9:g.5284 9202_52849662del	GRCh37 (hg19)		NC_000019.9	Chr19	52,849,202	52,849,662

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)
nssv17967731	0.027	174	6404

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