A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv109n206



Internal ID22755413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99582731..99640671hg38UCSC Ensembl
chr12:99976509..100034449hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3857941
hg1957941
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5510220, nsv5505118
Samples
Known GenesANKS1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)dgv109n206
Frequency
Sample Size3202
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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