A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596652



Internal ID16384061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:467561..472407hg38UCSC Ensembl
Innerchr5:467676..472522hg19UCSC Ensembl
Innerchr5:520676..525522hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg384847
hg194847
hg184847
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9483n54
Supporting Variantsnssv1021210
Samples
Known GenesPP7080
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596652
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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