A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596614



Internal ID16037337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:299506..438449hg38UCSC Ensembl
Innerchr5:299621..438564hg19UCSC Ensembl
Innerchr5:352621..491564hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38138944
hg19138944
hg18138944
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153277
SamplesHGDP00045
Known GenesAHRR, PDCD6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596614
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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