A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17019317



Internal ID80508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144319212..144319291hg38UCSC Ensembl
chr8:145542875..145542954hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5480491
Supporting Variants
Samples
Known GenesDGAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17019317
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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