A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3543369



Internal ID22412426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63670393..63670393hg38UCSC Ensembl
chr20:62301746..62301746hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14395105
SamplesNA19240
Known GenesRTEL1, RTEL1-TNFRSF6B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3543369
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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