A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16926828



Internal ID18619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171214161..171216359hg38UCSC Ensembl
chr2:172070671..172072869hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg382199
hg192199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445416
Supporting Variants
Samples
Known GenesTLK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16926828
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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