A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721156



Internal ID21747477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:133070129..133070129hg38UCSC Ensembl
chr8:134082374..134082374hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg386012
hg196012
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234942
Samples
Known GenesSLA, TG
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)nsv5721156
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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