A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3114942



Internal ID21298208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:93331124..93334692hg38UCSC Ensembl
Innerchr14:93797470..93801038hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg383569
hg193569
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14093969
Samplessample289
Known GenesBTBD7, UNC79
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3114942
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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