A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14347455



Internal ID22303575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:32463889..32463889hg38UCSC Ensembl
chr9:32463887..32463887hg19UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV line1 insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3565370
Supporting Variants
SamplesNA19240
Known GenesDDX58
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)nssv14347455
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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