A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565120



Internal ID16005843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73532494..73538343hg38UCSC Ensembl
Innerchr14:73999198..74005047hg19UCSC Ensembl
Innerchr14:73068951..73074800hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg385850
hg195850
hg185850
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3765n54
Supporting Variantsnssv829316, nssv829319, nssv829317, nssv829318
Samples
Known GenesACOT1, HEATR4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565120
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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