A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17368063



Internal ID22593732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93500780..93501895hg38UCSC Ensembl
chr12:93894556..93895671hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381116
hg191116
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5936140
Supporting Variants
Samples
Known GenesMRPL42
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17368063
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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