A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545393



Internal ID319440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46231201..46234565hg38UCSC Ensembl
chr22:46627098..46630462hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg383365
hg193365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729555
Samples
Known GenesPPARA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545393
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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