A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17013340



Internal ID76565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80285042..80288548hg38UCSC Ensembl
chr8:81197277..81200783hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg383507
hg193507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5489394
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17013340
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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