A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730993



Internal ID21757314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124907294..124907294hg38UCSC Ensembl
chr8:125919536..125919536hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38625
hg19625
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248856
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)nsv5730993
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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