A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723886



Internal ID21750207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:144027712..144027712hg38UCSC Ensembl
chr6:144348849..144348849hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg381379
hg191379
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242897, nssv17240768
Samples
Known GenesPLAGL1
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)nsv5723886
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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