A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483294



Internal ID260733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:137450571..137450940hg38UCSC Ensembl
chr8:138462814..138463183hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38370
hg19370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17019872
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483294
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