A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542680



Internal ID317075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20036418..20036483hg38UCSC Ensembl
chr22:20023941..20024006hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727675
Samples
Known GenesTANGO2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542680
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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