A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727080



Internal ID21753401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56972495..56972495hg38UCSC Ensembl
chr16:57006407..57006407hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg386010
hg196010
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242152
Samples
Known GenesCETP
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)nsv5727080
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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