A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596714



Internal ID16384123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:668277..880385hg38UCSC Ensembl
Innerchr5:668392..880500hg19UCSC Ensembl
Innerchr5:721392..933500hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38212109
hg19212109
hg18212109
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1021336
Samples
Known GenesBRD9, TPPP, ZDHHC11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596714
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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