A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5831842



Internal ID22606777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197893607..197896941hg38UCSC Ensembl
chr2:198758331..198761665hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg383335
hg193335
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17481966
Samples
Known GenesPLCL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5831842
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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