A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599732



Internal ID16040455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:134099223..134230401hg38UCSC Ensembl
Innerchr5:133434914..133566092hg19UCSC Ensembl
Innerchr5:133462813..133593991hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38131179
hg19131179
hg18131179
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1032704
Samples
Known GenesMIR3661, PPP2CA, SKP1, TCF7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599732
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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