A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561571



Internal ID16348980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:43167710..43214022hg38UCSC Ensembl
Innerchr13:43741846..43788158hg19UCSC Ensembl
Innerchr13:42639846..42686158hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3846313
hg1946313
hg1846313
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3133n54
Supporting Variantsnssv809973
Samples
Known GenesENOX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561571
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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