A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724596



Internal ID21750917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:138404224..138404224hg38UCSC Ensembl
chr4:139325378..139325378hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244834
Samples
Known GenesLINC00499
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)nsv5724596
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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