A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729357



Internal ID21755678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:89696818..89696818hg38UCSC Ensembl
chr11:89429986..89429986hg19UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244855
Samples
Known GenesFOLH1B
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)nsv5729357
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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