A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726129



Internal ID21752450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:66770541..66770541hg38UCSC Ensembl
chr5:66066369..66066369hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17233502, nssv17246490
Samples
Known GenesMAST4
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)nsv5726129
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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