A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14099279



Internal ID21275704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18937152..19070765hg38UCSC Ensembl
Innerchr16:18948474..19082087hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38133614
hg19133614
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3111442
Supporting Variants
Samplessample226
Known GenesCOQ7, TMC7
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14099279
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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