A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3559794



Internal ID22428590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46347579..46347579hg38UCSC Ensembl
chr11:46369129..46369129hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381506
hg191506
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14358173, nssv14358172
SamplesNA19239, HG00731
Known GenesDGKZ
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)nsv3559794
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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