A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720712



Internal ID21747033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:51778669..51778669hg38UCSC Ensembl
chr15:52070866..52070866hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg383666
hg193666
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246842, nssv17242041
Samples
Known GenesTMOD2
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)nsv5720712
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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