A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725729



Internal ID21752050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79323381..79323381hg38UCSC Ensembl
chr12:79717161..79717161hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38575
hg19575
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251944
Samples
Known GenesSYT1
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)nsv5725729
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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