A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730860



Internal ID21757181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105229951..105229951hg38UCSC Ensembl
chr12:105623729..105623729hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241888
Samples
Known GenesAPPL2
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)nsv5730860
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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