A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17734143



Internal ID157809
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 StatusS
Merged Variantsnsv5530455
Supporting Variants
Samples
Known GenesLINC00478
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17734143
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer