A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561554



Internal ID16002277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42770265..43257229hg38UCSC Ensembl
Innerchr13:43344401..43831365hg19UCSC Ensembl
Innerchr13:42242401..42729365hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38486965
hg19486965
hg18486965
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3129n54
Supporting Variantsnssv809960
Samples
Known GenesDNAJC15, ENOX1, EPSTI1, FAM216B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561554
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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