A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729302



Internal ID21755623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74241903..74241903hg38UCSC Ensembl
chr5:73537728..73537728hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251980, nssv17244505
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)nsv5729302
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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