A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222384



Internal ID22366480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:41182082..41264111hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3882030
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280309, nssv14280308, nssv14280311, nssv14280306, nssv14280310, nssv14280307
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222384
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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