A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14330228



Internal ID22245703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:126302452..126302452hg38UCSC Ensembl
chr6:126623598..126623598hg19UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV line1 insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564541
Supporting Variants
SamplesHG00733
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)nssv14330228
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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