A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233991



Internal ID22372900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63652317..63697457hg38UCSC Ensembl
Outerchr20:62283670..62328810hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381661
hg191661
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266512, nssv14266513
SamplesNA19239, NA19240
Known GenesRTEL1, RTEL1-TNFRSF6B, STMN3, TNFRSF6B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233991
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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