A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1026951



Internal ID18769482
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 StatusM
Merged Variantsdgv6337n100
Supporting Variantsnssv3643869
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)nsv1026951
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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