A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3647094



Internal ID18598689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:116047007..116166095hg38UCSC Ensembl
Innerchr5:115382704..115501792hg19UCSC Ensembl
Innerchr5:115410603..115529691hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38119089
hg19119089
hg18119089
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1027266
Supporting Variants
Samples
Known GenesARL14EPL, COMMD10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3647094
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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