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dbVar

Database of genomic structural variation

nsv4653077

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:19,416

Description:esv3845456 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: 335 SVs from 61 studies. See in: genome view

Remapped(Score: Perfect):78,169,588-78,189,003

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4653077	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	78,169,588	78,189,003
nsv4653077	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	78,879,305	78,898,720

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16201745	copy number loss	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16201745	Remapped	Perfect	NC_000006.12:g.781 69588_78189003del	GRCh38.p12	First Pass	NC_000006.12	Chr6	78,169,588	78,189,003
nssv16201745	Submitted genomic		NC_000006.11:g.788 79305_78898720del	GRCh37 (hg19)		NC_000006.11	Chr6	78,879,305	78,898,720

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)
nssv16201745	0.037	187	5008

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