A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18223225



Internal ID20790265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11936353..12007996hg38UCSC Ensembl
chr8:11793862..11865505hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3871644
hg1971644
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6432682
Supporting Variants
Samples
Known GenesDEFB134, DEFB135, DEFB136
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18223225
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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