A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217504



Internal ID22363144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:93944908..93950866hg38UCSC Ensembl
Outerchr11:93678074..93684032hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg385959
hg195959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253603, nssv14253606, nssv14253602, nssv14253605, nssv14253604
SamplesNA19238, NA19239, HG00731, NA19240, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217504
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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