A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516653



Internal ID293101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:50479574..50479653hg38UCSC Ensembl
chr18:48005944..48006023hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718120
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516653
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