A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220896



Internal ID22365456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:43429726..43474936hg38UCSC Ensembl
Outerchr18:41009691..41054901hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3845211
hg1945211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262064, nssv14262065, nssv14262063
SamplesNA19239, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220896
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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