A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716363



Internal ID21742684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106976663..106976663hg38UCSC Ensembl
chr12:107370441..107370441hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38392
hg19392
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246539, nssv17249955
Samples
Known Genes
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)nsv5716363
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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