A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17018522



Internal ID79990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123121199..123121296hg38UCSC Ensembl
chr8:124133439..124133536hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5477349
Supporting Variants
Samples
Known GenesTBC1D31
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17018522
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.017952


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