A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17009284



Internal ID73825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30138190..30146669hg38UCSC Ensembl
chr8:29995706..30004185hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg388480
hg198480
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5487333
Supporting Variants
Samples
Known GenesMBOAT4, MIR548O2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17009284
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer