A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727383



Internal ID21753704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:54003685..54003685hg38UCSC Ensembl
chr16:54037597..54037597hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239153
Samples
Known GenesFTO
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)nsv5727383
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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