A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729203



Internal ID21755524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:141179296..141179296hg38UCSC Ensembl
chr4:142100450..142100450hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg386014
hg196014
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247473, nssv17234993
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)nsv5729203
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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