A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565117



Internal ID16005840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73532272..73548935hg38UCSC Ensembl
Innerchr14:73998976..74015639hg19UCSC Ensembl
Innerchr14:73068729..73085392hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3816664
hg1916664
hg1816664
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3763n54
Supporting Variantsnssv829312, nssv829313
Samples
Known GenesACOT1, HEATR4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565117
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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