A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719169



Internal ID21745490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:61903010..61903010hg38UCSC Ensembl
chr18:59570243..59570243hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg381150
hg191150
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252282
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)nsv5719169
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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