A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18227621



Internal ID20794661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:79982170..79982462hg38UCSC Ensembl
chr8:80894405..80894697hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6424036
Supporting Variants
Samples
Known GenesMRPS28
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18227621
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00011


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