A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493299



Internal ID270484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:98067678..98069372hg38UCSC Ensembl
chr8:99079906..99081600hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg381695
hg191695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17014201
Samples
Known GenesC8orf47
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493299
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