A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213131



Internal ID22360170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78612693..78634551hg38UCSC Ensembl
Outerchr18:76372693..76394551hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3821859
hg1921859
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261699, nssv14261700, nssv14261698
SamplesHG00512, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213131
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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