A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5698311



Internal ID21724632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5486109..5486109hg38UCSC Ensembl
chr18:5486108..5486108hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17200066
Samples
Known GenesEPB41L3
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)nsv5698311
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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