A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714116



Internal ID21740437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:133555206..133555206hg38UCSC Ensembl
chr11:133425101..133425101hg19UCSC Ensembl
Cytoband11q25
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 Variantsnssv17228030, nssv17190718
Samples
Known Genes
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)nsv5714116
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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