A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18226890



Internal ID20793930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100135501..100173600hg38UCSC Ensembl
chr8:101147729..101185828hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3838100
hg1938100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6431923
Supporting Variants
Samples
Known GenesFBXO43, POLR2K, SPAG1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18226890
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00061


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