A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226349



Internal ID22369184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:5837161..5873254hg38UCSC Ensembl
Outerchr11:5858391..5894484hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3836094
hg1936094
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253274, nssv14253272, nssv14253273
SamplesNA19238, NA19239, NA19240
Known GenesOR52E6, OR52E8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226349
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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