A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599745



Internal ID16040468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:135329392..135393177hg38UCSC Ensembl
Innerchr5:134665082..134728867hg19UCSC Ensembl
Innerchr5:134692981..134756766hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3863786
hg1963786
hg1863786
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1032722
Samples
Known GenesC5orf66, H2AFY
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599745
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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