A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598390



Internal ID16039113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:64554330..64982002hg38UCSC Ensembl
Innerchr5:63850157..64277829hg19UCSC Ensembl
Innerchr5:63885913..64313585hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38427673
hg19427673
hg18427673
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1034585
Samples
Known GenesCWC27, FAM159B, RGS7BP, SREK1IP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598390
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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