A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17727909



Internal ID151575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22833000..23312782hg38UCSC Ensembl
chr22:23175176..23654969hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38479783
hg19479794
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5542984
Supporting Variants
Samples
Known GenesBCR, FBXW4P1, GNAZ, IGLL5, RAB36, RTDR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17727909
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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