A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112321



Internal ID21295587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:37363554..37369513hg38UCSC Ensembl
Innerchr21:38735856..38741815hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg385960
hg195960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14102052
Samplessample245
Known GenesDYRK1A
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3112321
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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