A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518936



Internal ID295298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:254167..270335hg38UCSC Ensembl
chr20:234808..250976hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3816169
hg1916169
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730165
Samples
Known GenesDEFB132
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518936
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer