A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565125



Internal ID16005848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73532494..73549270hg38UCSC Ensembl
Innerchr14:73999198..74015974hg19UCSC Ensembl
Innerchr14:73068951..73085727hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3816777
hg1916777
hg1816777
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv829326
Samples
Known GenesACOT1, HEATR4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565125
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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