A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18234802



Internal ID20801842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22533528..22534340hg38UCSC Ensembl
chr8:22391041..22391853hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38813
hg19813
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6430422
Supporting Variants
Samples
Known GenesPPP3CC
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18234802
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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