A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17734228



Internal ID157894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:19116597..19121483hg38UCSC Ensembl
chr21:20488915..20493801hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg384887
hg194887
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5526295
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17734228
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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