A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018614



Internal ID18761147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60412396..60614481hg38UCSC Ensembl
Innerchr5:59708223..59910308hg19UCSC Ensembl
Innerchr5:59743980..59946065hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38202086
hg19202086
hg18202086
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3640711
Samples
Known GenesDEPDC1B, PART1, PDE4D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018614
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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