A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434005



Internal ID212696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:170218167..170230486hg38UCSC Ensembl
chr3:169935955..169948274hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg3812320
hg1912320
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16942486
Samples
Known GenesPRKCI
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434005
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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