A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219466



Internal ID22364482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:47396545..47403143hg38UCSC Ensembl
Outerchr18:44922916..44929514hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg386599
hg196599
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262070
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219466
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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