A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5534217



Internal ID310054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43143353..43148599hg38UCSC Ensembl
chr22:43539359..43544605hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg385247
hg195247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729296
Samples
Known GenesMCAT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5534217
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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