A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720770



Internal ID21747091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:27744016..27744016hg38UCSC Ensembl
chr18:25323980..25323980hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38635
hg19635
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238386
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)nsv5720770
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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