A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530455



Internal ID306440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:16370169..16370282hg38UCSC Ensembl
chr21:17742489..17742602hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734143
Samples
Known GenesLINC00478
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530455
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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