A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530948



Internal ID306916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63147041..63147378hg38UCSC Ensembl
chr18:60814274..60814611hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718794
Samples
Known GenesBCL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530948
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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