A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217415



Internal ID22363081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:41609398..41624103hg38UCSC Ensembl
Outerchr21:43029558..43044263hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3814706
hg1914706
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267917, nssv14267918, nssv14267919
SamplesHG00512, HG00732, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217415
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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