A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3581997



Internal ID18533592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74925373..75011550hg38UCSC Ensembl
Innerchr2:75152500..75238677hg19UCSC Ensembl
Innerchr2:75006008..75092185hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3886178
hg1986178
hg1886178
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1003812
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)nssv3581997
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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