A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17013313



Internal ID76548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:79957589..79958621hg38UCSC Ensembl
chr8:80869824..80870856hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg381033
hg191033
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5479170
Supporting Variants
Samples
Known GenesMRPS28
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17013313
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002185


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