A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17013315



Internal ID76550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:79982170..79982462hg38UCSC Ensembl
chr8:80894405..80894697hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5482161
Supporting Variants
Samples
Known GenesMRPS28
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17013315
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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