A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697189



Internal ID21723510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:69666310..69666310hg38UCSC Ensembl
chr11:69481078..69481078hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17191210
Samples
Known GenesORAOV1
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)nsv5697189
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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