A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv117n206



Internal ID22755421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132670889..132827413hg38UCSC Ensembl
chr12:133247475..133403999hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38156525
hg19156525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5496995, nsv5499138
Samples
Known GenesANKLE2, GOLGA3, PGAM5, POLE, PXMP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)dgv117n206
Frequency
Sample Size3202
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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