A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520007



Internal ID22389415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:73067663..73067663hg38UCSC Ensembl
chr8:73979898..73979898hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14456756, nssv14428585, nssv14402829
SamplesNA19240, HG00733, HG00514
Known GenesSBSPON
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a Alu.Mosaic mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3520007
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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