A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720220



Internal ID21746541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:58966552..58966552hg38UCSC Ensembl
chr17:57043913..57043913hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250092, nssv17252977
Samples
Known GenesPPM1E
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)nsv5720220
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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