A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716233



Internal ID21742554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125243567..125243567hg38UCSC Ensembl
chr9:128005846..128005846hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252033, nssv17239776
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)nsv5716233
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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