A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218303



Internal ID22363688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:48867085..48885141hg38UCSC Ensembl
Outerchr20:47483622..47501678hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3818057
hg1918057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266325
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218303
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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