A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14377093



Internal ID22143860
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560382
Supporting Variants
SamplesHG00514
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)nssv14377093
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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