A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599372



Internal ID16386781
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 StatusM
Merged Variants
Supporting Variantsnssv1153580
SamplesHGDP00732
Known GenesEPB41L4A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599372
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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