A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3731979



Internal ID18683574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74941170..75013442hg38UCSC Ensembl
Innerchr2:75168297..75240569hg19UCSC Ensembl
Innerchr2:75021805..75094077hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3872273
hg1972273
hg1872273
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1005671
Supporting Variants
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)nssv3731979
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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