A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18229117



Internal ID20796157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:79987754..80008752hg38UCSC Ensembl
chr8:80899989..80920987hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3820999
hg1920999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6418261
Supporting Variants
Samples
Known GenesMRPS28
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18229117
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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