A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519299



Internal ID15446592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:189285479..189286414hg38UCSC Ensembl
Innerchr2:190150205..190151140hg19UCSC Ensembl
Innerchr2:189858450..189859385hg18UCSC Ensembl
Innerchr2:189975711..189976646hg17UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38936
hg19936
hg18936
hg17936
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696775
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519299
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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