A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217446



Internal ID22363097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:4018706..4045162hg38UCSC Ensembl
Outerchr20:3999353..4025809hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3826457
hg1926457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266610, nssv14266609
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217446
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer