A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729228



Internal ID21755549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:77805862..77805862hg38UCSC Ensembl
chr6:78515579..78515579hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg383276
hg193276
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234160, nssv17244131
Samples
Known GenesMEI4
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)nsv5729228
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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