A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718709



Internal ID21745030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:33718166..33718166hg38UCSC Ensembl
chr18:31298130..31298130hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38724
hg19724
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238605
Samples
Known GenesASXL3
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)nsv5718709
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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