A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213028



Internal ID22360104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:69273490..69296263hg38UCSC Ensembl
Outerchr9:71888406..71911179hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3822774
hg1922774
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281170, nssv14281169, nssv14281165, nssv14281164, nssv14281168, nssv14281166, nssv14281167
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213028
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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