A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3640764



Internal ID18592359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60673707..60783995hg38UCSC Ensembl
Innerchr5:59969534..60079822hg19UCSC Ensembl
Innerchr5:60005291..60115579hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38110289
hg19110289
hg18110289
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1023403
Supporting Variants
Samples
Known GenesDEPDC1B, ELOVL7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3640764
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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