A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596918



Internal ID16037641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:2735622..2774976hg38UCSC Ensembl
Innerchr5:2735736..2775090hg19UCSC Ensembl
Innerchr5:2788736..2828090hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3839355
hg1939355
hg1839355
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152989
Samples1780862414_A
Known GenesC5orf38, IRX2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596918
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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