A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727047



Internal ID21753368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46388976..46388976hg38UCSC Ensembl
chr18:43968939..43968939hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg386004
hg196004
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237939
Samples
Known GenesRNF165
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)nsv5727047
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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