A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14395562



Internal ID22296637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62267935..62267935hg38UCSC Ensembl
chr20:60842991..60842991hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520763
Supporting Variants
SamplesNA19240
Known GenesOSBPL2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14395562
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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