A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729533



Internal ID153199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46034091..46034091hg38UCSC Ensembl
chr22:46429971..46429971hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5535386
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729533
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.007208


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