A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239237



Internal ID22370364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:72938178..72993319hg38UCSC Ensembl
Outerchr18:70605413..70660554hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3812656
hg1912656
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262949, nssv14262950, nssv14262948, nssv14262947, nssv14262951, nssv14262946
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239237
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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