A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561561



Internal ID16002284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42899979..43216239hg38UCSC Ensembl
Innerchr13:43474115..43790375hg19UCSC Ensembl
Innerchr13:42372115..42688375hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38316261
hg19316261
hg18316261
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3131n54
Supporting Variantsnssv809964
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)nsv561561
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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