A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500025



Internal ID276974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:122793127..122793210hg38UCSC Ensembl
chr11:122663835..122663918hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053329
Samples
Known GenesUBASH3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500025
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