A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218380



Internal ID22363738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:40522444..40614719hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3892276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9552n152
Supporting Variantsnssv14280290, nssv14280288, nssv14280287, nssv14280292, nssv14280291, nssv14280289
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)nsv3218380
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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