A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560382



Internal ID22429179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:33739651..33739651hg38UCSC Ensembl
chr15:34031852..34031852hg19UCSC Ensembl
Cytoband15q14
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 Variantsnssv14377093, nssv14392124, nssv14381557
SamplesHG00512, HG00513, HG00514
Known GenesRYR3
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)nsv3560382
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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