A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726973



Internal ID21753294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:118858570..118858570hg38UCSC Ensembl
chr1:119401193..119401193hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38391
hg19391
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236548, nssv17243498
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)nsv5726973
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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