A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564541



Internal ID22433271
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14330228, nssv14330227
SamplesHG00732, HG00733
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)nsv3564541
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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