A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1040264



Internal ID15546764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:112064188..112696978hg38UCSC Ensembl
Innerchr5:111399885..112032675hg19UCSC Ensembl
Innerchr5:111427784..112060574hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38632791
hg19632791
hg18632791
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv599368
Supporting Variants
Samples
Known GenesEPB41L4A, EPB41L4A-AS1, EPB41L4A-AS2, LOC102467214, LOC102467216, SNORA13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1040264
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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