A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17019318



Internal ID80509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144320072..144320530hg38UCSC Ensembl
chr8:145543735..145544193hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38459
hg19459
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5489340
Supporting Variants
Samples
Known GenesDGAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17019318
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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