A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv566123



Internal ID16006846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104865033..104881151hg38UCSC Ensembl
Innerchr14:105331370..105347488hg19UCSC Ensembl
Innerchr14:104402415..104418533hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3816119
hg1916119
hg1816119
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3971n54
Supporting Variantsnssv834688
Samples
Known GenesCEP170B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv566123
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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