A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596923



Internal ID16384332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:3591128..3596307hg38UCSC Ensembl
Innerchr5:3591242..3596421hg19UCSC Ensembl
Innerchr5:3644242..3649421hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg385180
hg195180
hg185180
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9549n54
Supporting Variantsnssv1023680
Samples
Known GenesIRX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596923
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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