A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17728580



Internal ID152246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33040509..33040677hg38UCSC Ensembl
chr22:33436494..33436662hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5549622
Supporting Variants
Samples
Known GenesSYN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17728580
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