A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545236



Internal ID319294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38149835..38149885hg38UCSC Ensembl
chr22:38545842..38545892hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728903
Samples
Known GenesPLA2G6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545236
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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