A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729087



Internal ID152753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:40652959..40653773hg38UCSC Ensembl
chr22:41048963..41049777hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38815
hg19815
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5549413
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729087
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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