A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565129



Internal ID16005852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73532494..73583411hg38UCSC Ensembl
Innerchr14:73999198..74050115hg19UCSC Ensembl
Innerchr14:73068951..73119868hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3850918
hg1950918
hg1850918
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3764n54
Supporting Variantsnssv829331
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)nsv565129
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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