A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708427



Internal ID21734748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:112084386..112084386hg38UCSC Ensembl
chr11:111955110..111955110hg19UCSC Ensembl
Cytoband11q23.1
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 Variantsnssv17191584, nssv17214232
Samples
Known GenesC11orf57
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)nsv5708427
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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