A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1040263



Internal ID15546763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:111588583..112267016hg38UCSC Ensembl
Innerchr5:110924280..111602713hg19UCSC Ensembl
Innerchr5:110952179..111630612hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38678434
hg19678434
hg18678434
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv599367
Supporting Variants
Samples
Known GenesEPB41L4A, EPB41L4A-AS1, NREP, NREP-AS1, SNORA13, STARD4-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1040263
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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