A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565149



Internal ID16005872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73539224..73543861hg38UCSC Ensembl
Innerchr14:74005928..74010565hg19UCSC Ensembl
Innerchr14:73075681..73080318hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg384638
hg194638
hg184638
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3771n54
Supporting Variantsnssv829373, nssv829374
Samples
Known GenesACOT1, HEATR4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565149
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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