A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225364



Internal ID22368515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:33848251..33854055hg38UCSC Ensembl
Outerchr11:33869797..33875601hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg385805
hg195805
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253308, nssv14253307, nssv14253309
SamplesNA19238, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225364
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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