A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17017106



Internal ID79064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124420455..124471155hg38UCSC Ensembl
chr8:125432696..125483396hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3850701
hg1950701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5478829
Supporting Variants
Samples
Known GenesRNF139-AS1, TRMT12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17017106
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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