A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5698384



Internal ID21724705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:57925543..57925543hg38UCSC Ensembl
chr11:57693015..57693015hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17190527
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)nsv5698384
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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