A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720284



Internal ID21746605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:34714654..34714654hg38UCSC Ensembl
chr1:35180255..35180255hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252488
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)nsv5720284
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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