A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17727310



Internal ID150977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46382908..46383965hg38UCSC Ensembl
chr21:47802823..47803880hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381058
hg191058
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146349
Supporting Variants
Samples
Known GenesPCNT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17727310
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.337564


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