A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233937



Internal ID22372884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78613385..78642266hg38UCSC Ensembl
Outerchr18:76373385..76402266hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg388570
hg198570
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262659
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233937
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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