A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598411



Internal ID16039134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:68212683..68216490hg38UCSC Ensembl
Innerchr5:67508511..67512318hg19UCSC Ensembl
Innerchr5:67544267..67548074hg18UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg383808
hg193808
hg183808
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1034608
Samples
Known GenesPIK3R1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598411
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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