A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561566



Internal ID16002289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42924015..43222033hg38UCSC Ensembl
Innerchr13:43498151..43796169hg19UCSC Ensembl
Innerchr13:42396151..42694169hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38298019
hg19298019
hg18298019
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3131n54
Supporting Variantsnssv809968
Samples
Known GenesDNAJC15, ENOX1, EPSTI1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561566
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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