A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215230



Internal ID22361632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:50333778..50352231hg38UCSC Ensembl
Outerchr18:47860148..47878601hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3818454
hg1918454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262076, nssv14262077
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215230
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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