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dbVar

Database of genomic structural variation

nsv6303741

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:47,917

Description:nsv5469992 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: 230 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):18,011,414-18,059,330

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6303741	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	18,011,414	18,059,330
nsv6303741	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	18,051,037	18,098,953

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17651780	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17651780	Remapped	Perfect	NC_000007.14:g.180 11414_18059330del	GRCh38.p12	First Pass	NC_000007.14	Chr7	18,011,414	18,059,330
nssv17651780	Submitted genomic		NC_000007.13:g.180 51037_18098953del	GRCh37 (hg19)		NC_000007.13	Chr7	18,051,037	18,098,953

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)
nssv17651780	0.011	72	6284

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