A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236677



Internal ID22373659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:47537498..47602193hg38UCSC Ensembl
Outerchr18:45063869..45128564hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381814
hg191814
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262377
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236677
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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