A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210573



Internal ID22358426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:20914830..20937376hg38UCSC Ensembl
Outerchr8:20772341..20794887hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3822547
hg1922547
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281575, nssv14281576
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210573
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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