A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009792



Internal ID18752323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74917558..75013442hg38UCSC Ensembl
Innerchr2:75144685..75240569hg19UCSC Ensembl
Innerchr2:74998193..75094077hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3895885
hg1995885
hg1895885
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3872n100
Supporting Variantsnssv3581996
Samples
Known GenesPOLE4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009792
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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