A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5528358



Internal ID304417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48705092..48705256hg38UCSC Ensembl
chr18:46231463..46231627hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718033
Samples
Known GenesCTIF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5528358
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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