A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725930



Internal ID21752251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69660371..69660371hg38UCSC Ensembl
chr12:70054151..70054151hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38420
hg19420
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252805
Samples
Known GenesBEST3
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)nsv5725930
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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