A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227724



Internal ID22370129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9971970..10058314hg38UCSC Ensembl
Outerchr21:10449998..10536342hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3886345
hg1986345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5436n152
Supporting Variantsnssv14267934, nssv14267935
SamplesHG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227724
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