A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565130



Internal ID16005853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73532551..73538343hg38UCSC Ensembl
Innerchr14:73999255..74005047hg19UCSC Ensembl
Innerchr14:73069008..73074800hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg385793
hg195793
hg185793
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3765n54
Supporting Variantsnssv829333, nssv829332
Samples
Known GenesACOT1, HEATR4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565130
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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