A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717009



Internal ID21743330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:39737495..39737495hg38UCSC Ensembl
chr20:38366137..38366137hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38407
hg19407
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237763
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)nsv5717009
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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