A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721490



Internal ID21747811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:69824457..69824457hg38UCSC Ensembl
chr18:67491693..67491693hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg38414
hg19414
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245216
Samples
Known GenesDOK6
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)nsv5721490
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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