A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17727798



Internal ID151464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21546000..21613564hg38UCSC Ensembl
chr22:21900289..21967853hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3867565
hg1967565
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146567
Supporting Variants
Samples
Known GenesRIMBP3B, RIMBP3C, UBE2L3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17727798
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