A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267468



Internal ID22221048
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234327
Supporting Variants
SamplesHG00733
Known GenesTPX2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267468
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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