A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720568



Internal ID21746889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:181547035..181547035hg38UCSC Ensembl
chr2:182411762..182411762hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg386008
hg196008
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241039
Samples
Known GenesCERKL
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)nsv5720568
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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