A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722274



Internal ID21748595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:10631070..10631070hg38UCSC Ensembl
chr4:10632694..10632694hg19UCSC Ensembl
Cytoband4p16.1
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 Variantsnssv17247766, nssv17251113
Samples
Known GenesCLNK
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)nsv5722274
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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