A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3647088



Internal ID18598683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:115877465..116090771hg38UCSC Ensembl
Innerchr5:115213162..115426468hg19UCSC Ensembl
Innerchr5:115241061..115454367hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38213307
hg19213307
hg18213307
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1021968
Supporting Variants
Samples
Known GenesAP3S1, AQPEP, ARL14EPL, COMMD10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3647088
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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