A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232228



Internal ID22372449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:121178161..121186546hg38UCSC Ensembl
Outerchr11:121048870..121057255hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38857
hg19857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1600n152
Supporting Variantsnssv14255733, nssv14255732, nssv14255734
SamplesHG00512, HG00731, HG00513
Known GenesTECTA
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232228
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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