A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16966947



Internal ID45293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79000348..79000414hg38UCSC Ensembl
chr5:78296171..78296237hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5469067
Supporting Variants
Samples
Known GenesDMGDH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16966947
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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