A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714171



Internal ID21740492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:110654585..110654585hg38UCSC Ensembl
chr10:112414343..112414343hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17216682, nssv17189200
Samples
Known GenesRBM20
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)nsv5714171
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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