A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542245



Internal ID316682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50447061..50447214hg38UCSC Ensembl
chr22:50885490..50885643hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729946
Samples
Known GenesSBF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542245
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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