A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1153279



Internal ID15873768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:438449..567131hg38UCSC Ensembl
Innerchr5:438564..567246hg19UCSC Ensembl
Innerchr5:491564..620246hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38128683
hg19128683
hg18128683
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv596627
Supporting Variants
SamplesHGDP00338
Known GenesC5orf55, EXOC3, MIR4456, PP7080, SLC9A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1153279
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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