A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216780



Internal ID22362660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:128208639..128218937hg38UCSC Ensembl
Outerchr11:128078534..128088832hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3810299
hg1910299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253653, nssv14253652
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216780
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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