A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17726113



Internal ID149779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:17373000..17379808hg38UCSC Ensembl
chr21:18745319..18752127hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg386809
hg196809
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146329
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17726113
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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