A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565118



Internal ID16005841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73532272..73576461hg38UCSC Ensembl
Innerchr14:73998976..74043165hg19UCSC Ensembl
Innerchr14:73068729..73112918hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3844190
hg1944190
hg1844190
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3764n54
Supporting Variantsnssv829314
Samples
Known GenesACOT1, ACOT2, HEATR4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565118
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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