A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560039



Internal ID16000762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:103783890..104061562hg38UCSC Ensembl
Innerchr12:104177668..104455340hg19UCSC Ensembl
Innerchr12:102701798..102979470hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38277673
hg19277673
hg18277673
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176427
SamplesHGDP00466
Known GenesC12orf73, GLT8D2, GNN, HSP90B1, MIR3652, NT5DC3, TDG
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560039
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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