A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695499



Internal ID21721820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106493273..106493273hg38UCSC Ensembl
chr12:106887051..106887051hg19UCSC 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 Variantsnssv17193672
Samples
Known GenesPOLR3B
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5695499
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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