A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558495



Internal ID22427298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:69122018..69122018hg38UCSC Ensembl
chr6:69831910..69831910hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14461365, nssv14425994
SamplesHG00733, HG00514
Known GenesBAI3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3558495
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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