A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218662



Internal ID22363938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:9770112..9773789hg38UCSC Ensembl
Outerchr8:9627622..9631299hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg382826
hg192826
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279182, nssv14279187, nssv14279180, nssv14279184, nssv14279183, nssv14279188, nssv14279181, nssv14279186, nssv14279185
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTNKS
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218662
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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