A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548772



Internal ID322497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42798273..42798454hg38UCSC Ensembl
chr22:43194279..43194460hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729270
Samples
Known GenesARFGAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548772
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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