A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421721



Internal ID200783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106493273..106493324hg38UCSC Ensembl
chr12:106887051..106887102hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690625
Samples
Known GenesPOLR3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421721
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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