A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225282



Internal ID22368466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:51657659..51677687hg38UCSC Ensembl
Outerchr19:52160912..52180940hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3820029
hg1920029
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263510, nssv14263508, nssv14263515, nssv14263512, nssv14263513, nssv14263507, nssv14263509, nssv14263511, nssv14263514
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225282
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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