A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5991231



Internal ID21900574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122933922..122934207hg38UCSC Ensembl
chr3:122652769..122653054hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38286
hg19286
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17541593
Samples
Known GenesSEMA5B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5991231
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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