A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228315



Internal ID22370542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:13962863..14070714hg38UCSC Ensembl
Outerchr21:15335184..15443035hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38107852
hg19107852
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267947
SamplesHG00732
Known GenesANKRD20A11P
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228315
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