A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520553



Internal ID296878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:137830..261757hg38UCSC Ensembl
chr20:118471..242398hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38123928
hg19123928
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730157
Samples
Known GenesDEFB126, DEFB127, DEFB128, DEFB129, DEFB132
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520553
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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