A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540524



Internal ID315276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:120421102..120421116hg38UCSC Ensembl
chr8:121433342..121433356hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17016014
Samples
Known GenesMRPL13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540524
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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