A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5991484



Internal ID21900827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122867757..122867890hg38UCSC Ensembl
chr3:122586604..122586737hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17548912
Samples
Known GenesDIRC2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5991484
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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