A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223406



Internal ID22367186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:1298973..1421267hg38UCSC Ensembl
Outerchr8:1247232..1369433hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38122295
hg19122202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280172, nssv14280173, nssv14280168, nssv14280170, nssv14280171, nssv14280169
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known GenesLOC286083
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223406
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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