A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17009851



Internal ID74210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47253614..47317659hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3864046
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5488027
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17009851
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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