A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596693



Internal ID16384102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:474507..485814hg38UCSC Ensembl
Innerchr5:474622..485929hg19UCSC Ensembl
Innerchr5:527622..538929hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3811308
hg1911308
hg1811308
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9493n54
Supporting Variantsnssv1021251
Samples
Known GenesSLC9A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596693
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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