A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212738



Internal ID22359899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:55693778..55701904hg38UCSC Ensembl
Outerchr18:53361009..53369135hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg388127
hg198127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262082
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212738
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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