A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230654



Internal ID22371990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:14916499..14932740hg38UCSC Ensembl
Outerchr18:14916498..14932739hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381025
hg191025
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262736, nssv14262733, nssv14262734, nssv14262738, nssv14262735, nssv14262732, nssv14262737
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230654
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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