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dbVar

Database of genomic structural variation

nsv4655513

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:47,583

Description:esv3830173 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: 460 SVs from 77 studies. See in: genome view

Remapped(Score: Perfect):46,762,087-46,809,669

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4655513	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	46,762,087	46,809,669
nsv4655513	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	46,803,577	46,851,159

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16197184	copy number loss	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16197184	Remapped	Perfect	NC_000003.12:g.467 62087_46809669del	GRCh38.p12	First Pass	NC_000003.12	Chr3	46,762,087	46,809,669
nssv16197184	Submitted genomic		NC_000003.11:g.468 03577_46851159del	GRCh37 (hg19)		NC_000003.11	Chr3	46,803,577	46,851,159

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)
nssv16197184	0.131	656	5008

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