A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542984



Internal ID317335
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 StatusM
Merged Variants
Supporting Variantsnssv17727909
Samples
Known GenesBCR, FBXW4P1, GNAZ, IGLL5, RAB36, RTDR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542984
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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