A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584887



Internal ID16372296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240884036..240919838hg38UCSC Ensembl
Innerchr2:241823453..241859255hg19UCSC Ensembl
Innerchr2:241472126..241507928hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3835803
hg1935803
hg1835803
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7376n54
Supporting Variantsnssv934089
Samples
Known GenesC2orf54
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584887
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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