A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714791



Internal ID21741112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:122379150..122379150hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg382151
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236882, nssv17249978
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)nsv5714791
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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