A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718264



Internal ID21744585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23585063..23585063hg38UCSC Ensembl
chr18:21165027..21165027hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg386005
hg196005
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240654
Samples
Known GenesNPC1
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)nsv5718264
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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