A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560447



Internal ID22429243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:38047062..38047062hg38UCSC Ensembl
chr15:38339263..38339263hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14383136
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3560447
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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