A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5524453



Internal ID300659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:25498833..25500979hg38UCSC Ensembl
chr18:23078797..23080943hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg382147
hg192147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716747
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5524453
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