A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590913



Internal ID16378322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:85868139..85995074hg38UCSC Ensembl
Innerchr3:85917289..86044224hg19UCSC Ensembl
Innerchr3:85999979..86126914hg18UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg38126936
hg19126936
hg18126936
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8425n54
Supporting Variantsnssv967552
Samples
Known GenesCADM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590913
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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