A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18223878



Internal ID20790918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:221482..492612hg38UCSC Ensembl
chr8:171482..442612hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38271131
hg19271131
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6429636
Supporting Variants
Samples
Known GenesFAM87A, FBXO25, RPL23AP53, TDRP, ZNF596
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18223878
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