A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718676



Internal ID21744997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:84354580..84354580hg38UCSC Ensembl
chr6:85064298..85064298hg19UCSC Ensembl
Cytoband6q14.3
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 Variantsnssv17244728
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)nsv5718676
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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