A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5489816



Internal ID267088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40223641..40225184hg38UCSC Ensembl
chr8:40081160..40082703hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381544
hg191544
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17009672
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5489816
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