A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5924643



Internal ID22699870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28486488..28487522hg38UCSC Ensembl
chr8:28344005..28345039hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg381035
hg191035
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17446463
Samples
Known GenesFBXO16
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5924643
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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