A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726912



Internal ID21753233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:89101432..89101432hg38UCSC Ensembl
chr12:89495209..89495209hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240596
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)nsv5726912
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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