A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564312



Internal ID16351721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35138507..35144578hg38UCSC Ensembl
Innerchr14:35607713..35613784hg19UCSC Ensembl
Innerchr14:34677464..34683535hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg386072
hg196072
hg186072
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3628n54
Supporting Variantsnssv825711, nssv825710
Samples
Known GenesKIAA0391
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564312
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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