A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17018698



Internal ID80105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:133070129..133070180hg38UCSC Ensembl
chr8:134082374..134082425hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg386012
hg196012
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5563361
Supporting Variants
Samples
Known GenesSLA, TG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17018698
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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