A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522647



Internal ID298910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:16385639..16399494hg38UCSC Ensembl
chr20:16366284..16380139hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3813856
hg1913856
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17731237
Samples
Known GenesKIF16B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522647
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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