A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564411



Internal ID22433141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:139349903..139349903hg38UCSC Ensembl
chr6:139671040..139671040hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg385338
hg195338
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14330335
SamplesNA19239
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)nsv3564411
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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