A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597790



Internal ID16385199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:33399094..33475695hg38UCSC Ensembl
Innerchr5:33399200..33475800hg19UCSC Ensembl
Innerchr5:33434957..33511557hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3876602
hg1976601
hg1876601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9716n54
Supporting Variantsnssv1153339
SamplesHGDP01047
Known GenesTARS
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597790
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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