A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716236



Internal ID21742557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:14890033..14890033hg38UCSC Ensembl
chr18:14890032..14890032hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38799
hg19799
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243587, nssv17247480
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)nsv5716236
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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