A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597789



Internal ID16385198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:33399094..33463006hg38UCSC Ensembl
Innerchr5:33399200..33463111hg19UCSC Ensembl
Innerchr5:33434957..33498868hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3863913
hg1963912
hg1863912
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9716n54
Supporting Variantsnssv1153337, nssv1153338
SamplesHGDP01049, HGDP01057
Known GenesTARS
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597789
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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