A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1153580



Internal ID15875744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:112331875..112363620hg38UCSC Ensembl
Innerchr5:111667572..111699317hg19UCSC Ensembl
Innerchr5:111695471..111727216hg18UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3831746
hg1931746
hg1831746
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv599372
Supporting Variants
SamplesHGDP00732
Known GenesEPB41L4A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1153580
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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