A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267514



Internal ID22280788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63671919..63697457hg38UCSC Ensembl
Outerchr20:62303272..62328810hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg389370
hg199370
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232241
Supporting Variants
SamplesNA19239
Known GenesRTEL1, RTEL1-TNFRSF6B, TNFRSF6B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267514
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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