A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5698204



Internal ID21724525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118973103..118973103hg38UCSC Ensembl
chr11:118843813..118843813hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17216299, nssv17190659
Samples
Known GenesFOXR1
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)nsv5698204
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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