A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728529



Internal ID21754850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:32937169..32937169hg38UCSC Ensembl
chr18:30517133..30517133hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38905
hg19905
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237059, nssv17247692
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)nsv5728529
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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