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dbVar

Database of genomic structural variation

nsv4658022

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:216,605

Description:esv3866345 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: 2131 SVs from 103 studies. See in: genome view

Remapped(Score: Perfect):7,847,526-8,064,130

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4658022	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	7,847,526	8,064,130
nsv4658022	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	8,000,122	8,216,726

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16206327	copy number variation	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16206327	Remapped	Perfect	GRCh38.p12	First Pass	NC_000012.12	Chr12	7,847,526	8,064,130
nssv16206327	Submitted genomic		GRCh37 (hg19)		NC_000012.11	Chr12	8,000,122	8,216,726

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)
nssv16206327	0.012	62	5008

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