A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212954



Internal ID22360047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:11499729..11529755hg38UCSC Ensembl
Outerchr18:11499728..11529754hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3830027
hg1930027
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262289, nssv14262290, nssv14262286, nssv14262291, nssv14262292, nssv14262287, nssv14262288
SamplesHG00512, NA19238, 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)nsv3212954
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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