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dbVar

Database of genomic structural variation

nsv4653621

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:182,091

Description:esv3855790 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: 1306 SVs from 94 studies. See in: genome view

Remapped(Score: Perfect):136,668,040-136,850,130

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4653621	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	136,668,040	136,850,130
nsv4653621	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	137,680,283	137,862,373

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16186038	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16186038	Remapped	Perfect	NC_000008.11:g.136 668040_136850130de l	GRCh38.p12	First Pass	NC_000008.11	Chr8	136,668,040	136,850,130
nssv16186038	Submitted genomic		NC_000008.10:g.137 680283_137862373de l	GRCh37 (hg19)		NC_000008.10	Chr8	137,680,283	137,862,373

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)
nssv16186038	0.014	71	5008

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