A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17734705



Internal ID158371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34011407..34015453hg38UCSC Ensembl
chr21:35383708..35387754hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg384047
hg194047
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5536745
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17734705
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.006558


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