A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5706228



Internal ID21732549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:124630044..124630044hg38UCSC Ensembl
chr11:124499940..124499940hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17223582, nssv17192038
Samples
Known GenesTBRG1
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)nsv5706228
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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