A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565134



Internal ID16005857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73533785..73539437hg38UCSC Ensembl
Innerchr14:74000489..74006141hg19UCSC Ensembl
Innerchr14:73070242..73075894hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg385653
hg195653
hg185653
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3768n54
Supporting Variantsnssv829338, nssv829337
Samples
Known GenesACOT1, HEATR4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565134
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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