A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598412



Internal ID16385821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:68275585..68315658hg38UCSC Ensembl
Innerchr5:67571413..67611486hg19UCSC Ensembl
Innerchr5:67607169..67647242hg18UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg3840074
hg1940074
hg1840074
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153359
SamplesHGDP01230
Known GenesPIK3R1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598412
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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