A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226465



Internal ID22369256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:32808632..32859335hg38UCSC Ensembl
Outerchr8:32666150..32716853hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3850704
hg1950704
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280916, nssv14280920, nssv14280922, nssv14280921, nssv14280919, nssv14280918, nssv14280915, nssv14280923, nssv14280917
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)nsv3226465
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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