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dbVar

Database of genomic structural variation

nsv4646502

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:140,857

Description:esv3844228 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: 1195 SVs from 93 studies. See in: genome view

Remapped(Score: Perfect):31,163,674-31,304,530

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4646502	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	31,163,674	31,304,530
nsv4646502	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	31,131,451	31,272,307

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16194655	copy number loss	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16194655	Remapped	Perfect	NC_000006.12:g.311 63674_31304530del	GRCh38.p12	First Pass	NC_000006.12	Chr6	31,163,674	31,304,530
nssv16194655	Submitted genomic		NC_000006.11:g.311 31451_31272307del	GRCh37 (hg19)		NC_000006.11	Chr6	31,131,451	31,272,307

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)
nssv16194655	0.069	344	5008

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