A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598108



Internal ID16385517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50664839..50934017hg38UCSC Ensembl
Innerchr5:49960673..50229851hg19UCSC Ensembl
Innerchr5:49996430..50265608hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg38269179
hg19269179
hg18269179
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1030163
Samples
Known GenesPARP8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598108
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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