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dbVar

Database of genomic structural variation

nsv4669956

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:86,843

Description:esv3887052 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: 1601 SVs from 96 studies. See in: genome view

Remapped(Score: Perfect):18,924,644-19,011,486

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4669956	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	18,924,644	19,011,486
nsv4669956	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	18,912,157	18,998,999

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16206183	copy number gain	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16206183	Remapped	Perfect	NC_000022.11:g.189 24644_19011486dup	GRCh38.p12	First Pass	NC_000022.11	Chr22	18,924,644	19,011,486
nssv16206183	Submitted genomic		NC_000022.10:g.189 12157_18998999dup	GRCh37 (hg19)		NC_000022.10	Chr22	18,912,157	18,998,999

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)
nssv16206183	0.014	69	5008

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