A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719365



Internal ID21745686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:101068059..101068059hg38UCSC Ensembl
chr8:102080287..102080287hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg385997
hg195997
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242033, nssv17246190
Samples
Known GenesFLJ42969
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)nsv5719365
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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