A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003812



Internal ID18746343
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 StatusM
Merged Variantsdgv3872n100
Supporting Variantsnssv3581997
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)nsv1003812
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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