A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684144



Internal ID107810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93500780..93501896hg38UCSC Ensembl
chr12:93894556..93895672hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381117
hg191117
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499606
Supporting Variants
Samples
Known GenesMRPL42
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684144
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.187695


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