A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545231



Internal ID319291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42141100..42151564hg38UCSC Ensembl
chr22:42537111..42547555hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3810465
hg1910445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729201
Samples
Known GenesCYP2D7P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545231
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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