A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724739



Internal ID21751060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105007042..105007042hg38UCSC Ensembl
chr12:105400820..105400820hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38630
hg19630
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237222
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)nsv5724739
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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