A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729901



Internal ID153567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49964072..49964123hg38UCSC Ensembl
chr22:50357720..50357771hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421915
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729901
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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