A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239326



Internal ID22374389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:34667454..34690992hg38UCSC Ensembl
Outerchr11:34689001..34712539hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg381232
hg191232
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254034, nssv14254033, nssv14254036, nssv14254035, nssv14254032, nssv14254038, nssv14254037
SamplesHG00512, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239326
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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