A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218117



Internal ID22363572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:128136793..128142580hg38UCSC Ensembl
Outerchr9:130899072..130904859hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg385788
hg195788
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282826, nssv14282828, nssv14282824, nssv14282825, nssv14282823, nssv14282827
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218117
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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