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dbVar

Database of genomic structural variation

nsv4650923

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:27,836

Description:esv3861303 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: 317 SVs from 58 studies. See in: genome view

Remapped(Score: Perfect):79,714,805-79,742,640

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4650923	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	79,714,805	79,742,640
nsv4650923	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	81,474,561	81,502,396

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16185831	copy number loss	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16185831	Remapped	Perfect	NC_000010.11:g.797 14805_79742640del	GRCh38.p12	First Pass	NC_000010.11	Chr10	79,714,805	79,742,640
nssv16185831	Submitted genomic		NC_000010.10:g.814 74561_81502396del	GRCh37 (hg19)		NC_000010.10	Chr10	81,474,561	81,502,396

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)
nssv16185831	0.469	2349	5008

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