A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv99n206



Internal ID22755403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9416512..9431512hg38UCSC Ensembl
chr12:9569108..9584108hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3815001
hg1915001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5501642, nsv5507927
Samples
Known GenesDDX12P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)dgv99n206
Frequency
Sample Size3202
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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