A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553870



Internal ID327074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19333564..19371564hg38UCSC Ensembl
chr22:19321087..19359087hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3838001
hg1938001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727639
Samples
Known GenesHIRA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553870
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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