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dbVar

Database of genomic structural variation

nsv4652625

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:29,062

Description:esv3870498 from 1000 Genomes Consortium Phase 3 Integrated SV. 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: 925 SVs from 83 studies. See in: genome view

Remapped(Score: Perfect):57,178,382-57,207,443

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4652625	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	57,178,382	57,207,443
nsv4652625	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	57,752,516	57,781,577

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16183945	copy number loss	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16183945	Remapped	Perfect	NC_000013.11:g.571 78382_57207443del	GRCh38.p12	First Pass	NC_000013.11	Chr13	57,178,382	57,207,443
nssv16183945	Submitted genomic		NC_000013.10:g.577 52516_57781577del	GRCh37 (hg19)		NC_000013.10	Chr13	57,752,516	57,781,577

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)
nssv16183945	0.273	1369	5008

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