A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3111442



Internal ID21294708
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 StatusM
Merged Variants
Supporting Variantsnssv14099279
Samplessample226
Known GenesCOQ7, TMC7
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3111442
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer