A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720740



Internal ID21747061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123516059..123516059hg38UCSC Ensembl
chr8:124528299..124528299hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247727
Samples
Known GenesFBXO32
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)nsv5720740
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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