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dbVar

Database of genomic structural variation

nsv4656065

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:58

Description:esv3844324 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: 115 SVs from 34 studies. See in: genome view

Remapped(Score: Perfect):33,161,197-33,161,254

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4656065	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	33,161,197	33,161,254
nsv4656065	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	33,128,974	33,129,031

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16181636	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16181636	Remapped	Perfect	NC_000006.12:g.331 61197_33161254del	GRCh38.p12	First Pass	NC_000006.12	Chr6	33,161,197	33,161,254
nssv16181636	Submitted genomic		NC_000006.11:g.331 28974_33129031del	GRCh37 (hg19)		NC_000006.11	Chr6	33,128,974	33,129,031

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)
nssv16181636	0.106	530	5008

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