A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717718



Internal ID21744039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61817851..61817851hg38UCSC Ensembl
chr11:61585323..61585323hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242090, nssv17236122
Samples
Known GenesFADS2
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5717718
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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