A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5991380



Internal ID21900723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133854665..133856000hg38UCSC Ensembl
chr3:133573509..133574844hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381336
hg191336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17548953
Samples
Known GenesRAB6B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5991380
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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