A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722072



Internal ID21748393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:90477325..90477325hg38UCSC Ensembl
chr1:90942882..90942882hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247941, nssv17243838
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)nsv5722072
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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