A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv191n206



Internal ID22755495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8742337..8812839hg38UCSC Ensembl
chr16:8836194..8906696hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3870503
hg1970503
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5528527, nsv5528792
Samples
Known GenesABAT, PMM2, TMEM186
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)dgv191n206
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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