A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722578



Internal ID21748899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:15116538..15116538hg38UCSC Ensembl
chr12:15269472..15269472hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243230, nssv17240161
Samples
Known GenesRERG
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)nsv5722578
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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