A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562105



Internal ID22430867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:10743407..10743407hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg382911
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14302615, nssv14302613, nssv14302620, nssv14302616, nssv14302617, nssv14302619, nssv14302618, nssv14302614
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
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)nsv3562105
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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