A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234327



Internal ID22373000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:31723803..31757053hg38UCSC Ensembl
Outerchr20:30311606..30344856hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg381381
hg191381
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267467, nssv14267471, nssv14267468, nssv14267470, nssv14267469
SamplesNA19238, NA19239, HG00732, NA19240, HG00733
Known GenesTPX2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234327
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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