A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3643869



Internal ID18942150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:39389437..39602662hg38UCSC Ensembl
Innerchr7:39429036..39642261hg19UCSC Ensembl
Innerchr7:39395561..39608786hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38213226
hg19213226
hg18213226
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1026951
Supporting Variants
Samples
Known GenesPOU6F2, POU6F2-AS1, YAE1D1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3643869
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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