A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227843



Internal ID22370207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45959109..45980434hg38UCSC Ensembl
Outerchr21:47379023..47400348hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3821326
hg1921326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5607n152
Supporting Variantsnssv14267950
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227843
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