A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5479170



Internal ID256702
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 StatusM
Merged Variants
Supporting Variantsnssv17013313
Samples
Known GenesMRPS28
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5479170
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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