A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545272



Internal ID319327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19516072..19516168hg38UCSC Ensembl
chr22:19503595..19503691hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727643
Samples
Known GenesCDC45
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545272
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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