A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218822



Internal ID22364044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:30793896..30809065hg38UCSC Ensembl
Outerchr19:31284803..31299972hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3815170
hg1915170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262512, nssv14262513, nssv14262511, nssv14262510, nssv14262514, nssv14262516, nssv14262515
SamplesHG00512, NA19238, 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)nsv3218822
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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