A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18224943



Internal ID20791983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:26576401..26579400hg38UCSC Ensembl
chr8:26433917..26436916hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6431174
Supporting Variants
Samples
Known GenesDPYSL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18224943
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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