A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18234347



Internal ID20801388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:52310563..52331076hg38UCSC Ensembl
chr8:53223123..53243636hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3820514
hg1920514
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6427208
Supporting Variants
Samples
Known GenesST18
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18234347
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