A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1153281



Internal ID15872672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:567131..618471hg38UCSC Ensembl
Innerchr5:567246..618586hg19UCSC Ensembl
Innerchr5:620246..671586hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3851341
hg1951341
hg1851341
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv596707
Supporting Variants
SamplesHGDP00011
Known GenesCEP72, LOC100996325
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1153281
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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