A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717196



Internal ID21743517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111046808..111046808hg38UCSC Ensembl
chr5:110382506..110382506hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38542
hg19542
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252076, nssv17237625
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)nsv5717196
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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