BDgene

CNV Report

Basic Info
Name CNV_Lyudmila Georgieva[2014]_15
Symbol in Literature 1/1/5003
Location chr22:21069073-21608479 (UCSC build 37, hg19)
Type deletion
Size 539406 bp
Band 22q11.21
Phenotype case

CNV related studies (count: 1)
Reference Author Comments
Georgieva, L., 2014 15 de novo CNVs were found in BD probands, a rate of 4.1% (2.4% for CNVs >100 kb) 15 de novo CNVs were found in BD probands, a rate of 4.1% (2.4% for CNVs >100 kb)

CNV related genes (count: 2)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
PI4KA phosphatidylinositol 4-kinase, catalytic, alpha 22q11.21 3(1/2/0)
SNAP29 synaptosomal-associated protein, 29kDa 22q11.21 3(1/2/0)

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Region: chr22:21069073..21608479 (UCSC build 37, hg19) View in gBrowse
(The coordinate of the CNV has been transformed to NCBI Build 37 (hg19) in gBrowse)
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