A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236373



Internal ID22373562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:29007920..29026238hg38UCSC Ensembl
Outerchr21:30380241..30398559hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg38879
hg19879
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267627, nssv14267626, nssv14267623, nssv14267625, nssv14267624
SamplesHG00512, NA19238, HG00731, HG00732, HG00513
Known GenesRWDD2B, USP16
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236373
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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