A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722083



Internal ID21748404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:89565401..89565401hg38UCSC Ensembl
chr8:90577630..90577630hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236407
Samples
Known Genes
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)nsv5722083
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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