A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518812



Internal ID15446105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237146254..237147941hg38UCSC Ensembl
Innerchr2:238054897..238056584hg19UCSC Ensembl
Innerchr2:237719636..237721323hg18UCSC Ensembl
Innerchr2:237836897..237838584hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381688
hg191688
hg181688
hg171688
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696265
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518812
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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