A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14096485



Internal ID21281205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:54923747..54931863hg38UCSC Ensembl
Innerchr16:54957659..54965775hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg388117
hg198117
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3117488
Supporting Variants
Samplessample309
Known GenesCRNDE, IRX5
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14096485
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