A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5698339



Internal ID21724660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:18230388..18230388hg38UCSC Ensembl
chr10:18519317..18519317hg19UCSC Ensembl
Cytoband10p12.33
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 Variantsnssv17187879
Samples
Known GenesCACNB2
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)nsv5698339
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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