A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596925



Internal ID16384334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:3594565..3597716hg38UCSC Ensembl
Innerchr5:3594679..3597830hg19UCSC Ensembl
Innerchr5:3647679..3650830hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg383152
hg193152
hg183152
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1023682
Samples
Known GenesIRX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596925
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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