A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418159



Internal ID197341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41663890..41663940hg38UCSC Ensembl
chr22:42059894..42059944hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729161
Samples
Known GenesXRCC6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418159
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