A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600134



Internal ID16387543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:157675177..157713453hg38UCSC Ensembl
Innerchr5:157102185..157140461hg19UCSC Ensembl
Innerchr5:157034763..157073039hg18UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3838277
hg1938277
hg1838277
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1154007
SamplesHGDP01293
Known GenesC5orf52
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600134
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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