A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244267



Internal ID22375814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:22523558..22552873hg38UCSC Ensembl
Outerchr18:20103521..20132836hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg385597
hg195597
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261856, nssv14261853, nssv14261855, nssv14261858, nssv14261859, nssv14261857, nssv14261860, nssv14261861, nssv14261854
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)nsv3244267
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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