A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718480



Internal ID21744801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:232824926..232824926hg38UCSC Ensembl
chr1:232960672..232960672hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38535
hg19535
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236666, nssv17244813
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)nsv5718480
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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