A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv110n206



Internal ID22755414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103445333..103454657hg38UCSC Ensembl
chr12:103839111..103848435hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg389325
hg199325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5499722, nsv5495867
Samples
Known GenesC12orf42
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)dgv110n206
Frequency
Sample Size3202
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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