A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240871



Internal ID22333773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:63206774..63236753hg38UCSC Ensembl
Outerchr18:60874007..60903986hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg381545
hg191545
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262917, nssv14262915, nssv14262921, nssv14262920, nssv14262919, nssv14262914, nssv14262913, nssv14262918, nssv14262916
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesBCL2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240871
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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