A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv566273



Internal ID16006996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105520758..105770768hg38UCSC Ensembl
Innerchr14:105987095..106237105hg19UCSC Ensembl
Innerchr14:105058140..105308150hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38250011
hg19250011
hg18250011
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3998n54
Supporting Variantsnssv834945
Samples
Known GenesELK2AP, MIR8071-1, MIR8071-2, TMEM121
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv566273
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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