A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5987241



Internal ID21896584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197892611..197893635hg38UCSC Ensembl
chr2:198757335..198758359hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381025
hg191025
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17527539
Samples
Known GenesPLCL1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5987241
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