A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv293n206



Internal ID22755597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:213717318..213721773hg38UCSC Ensembl
chr2:214582042..214586497hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg384456
hg194456
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5449253, nsv5446012
Samples
Known GenesSPAG16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)dgv293n206
Frequency
Sample Size3202
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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