A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233868



Internal ID22372861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:119506215..119512923hg38UCSC Ensembl
Outerchr11:119376926..119383634hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38729
hg19729
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1596n152
Supporting Variantsnssv14255730, nssv14255729, nssv14255731
SamplesHG00512, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233868
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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