A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558979



Internal ID22427783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49487168..49487168hg38UCSC Ensembl
chr6:49454881..49454881hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14464393, nssv14398846, nssv14426863
SamplesNA19240, HG00733, HG00514
Known GenesCENPQ
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3558979
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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