A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17734777



Internal ID158443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37479199..37479390hg38UCSC Ensembl
chr21:38851501..38851692hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5551286
Supporting Variants
Samples
Known GenesDYRK1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17734777
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004371


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