A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266512



Internal ID22277658
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233991
Supporting Variants
SamplesNA19239
Known GenesRTEL1, RTEL1-TNFRSF6B, STMN3, TNFRSF6B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266512
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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