A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228788



Internal ID22370860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:45406272..45416087hg38UCSC Ensembl
Outerchr11:45427822..45437637hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg389816
hg199816
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254437, nssv14254439, nssv14254438
SamplesHG00512, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228788
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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