A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420099



Internal ID199211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31221399..31221450hg38UCSC Ensembl
chr22:31617385..31617436hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728473
Samples
Known GenesLIMK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420099
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