A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1153359



Internal ID15878599
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 StatusS
Merged Variantsnsv598412
Supporting Variants
SamplesHGDP01230
Known GenesPIK3R1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1153359
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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