A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526995



Internal ID15107602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74916957..75012498hg38UCSC Ensembl
Innerchr2:75144084..75239625hg19UCSC Ensembl
Innerchr2:74997592..75093133hg18UCSC Ensembl
Innerchr2:75055739..75151280hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3895542
hg1995542
hg1895542
hg1795542
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703370
Samples
Known GenesPOLE4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526995
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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