A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599731



Internal ID16387140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:133824931..133910924hg38UCSC Ensembl
Innerchr5:133160622..133246615hg19UCSC Ensembl
Innerchr5:133188521..133274514hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3885994
hg1985994
hg1885994
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1032703
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599731
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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