A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600282



Internal ID16041005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172048685..172096432hg38UCSC Ensembl
Innerchr5:171475689..171523436hg19UCSC Ensembl
Innerchr5:171408294..171456041hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3847748
hg1947748
hg1847748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153120
Samples1780862520_A
Known GenesSTK10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600282
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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