A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17017389



Internal ID79240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116870222..116870281hg38UCSC Ensembl
chr8:117882461..117882520hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5481303
Supporting Variants
Samples
Known GenesRAD21
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17017389
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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