1p22.1-p13.3CNV Type: Deletion
Largest CNV size: 15800000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo 15.8 Mb deletion within the 1p22.1-p13.3 locus was identified in a male proband from a cohort of 1015 cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID) (DiGregorio et al., 2017).
Additional Locus Information
References
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
15800000
1
0
1
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
digregorio_17_DD/ID_discovery_cases-DECIPHER_301205
N/A
M
Developmental delay/intellectual disability
93223426
108903153
15679728
GRCh38
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
digregorio_17_DD/ID_discovery_cases-DECIPHER_301205
qPCR
De novo
RNA5SP53,MIR760,DNTTIP2,CHCHD2P5,MTND4P11,MTND3P21,MTCO3P21,MTATP6P13,MTCO2P21,MTCO1P21,RN7SL440P,GAPDHP29,KATNBL1P2,MIR378G,LINC01760,LINC01650,LINC01761,RNU1-130P,UBE2WP1,EEF1A1P11,RN7SL831P,NDUFS5P2,RPL7P9,RN7SKP270,SEC63P1,RPL26P9,DPYD-AS2,MIR2682,MIR137,NFU1P2,HMGB3P10,RNU4-75P,RNU6-750P,RNU6-1318P,RPL23AP90,BRI3P1,MIR553,BCAS2P2,GPR88,S1PR1,PPIAP7,RNU6-965P,RPSAP19,RNU6-352P,DNAJA1P5,SOD2P1,RN7SKP285,ACTG1P4,AMY2A,AMYP1,AMY1C,FTLP17,CDK4P1,SEPT2P1,MTATP6P14,MTCO1P14,PRMT6,MIR7852,ST13P21,PRPF38B,SPATA42,DR1,GCLM,F3,SLC44A3,CNN3,RWDD3,DPYD-IT1,LINC01776,PLPPR4,PALMD,MFSD14A,SASS6,LRRC39,DBT,RTCA-AS1,LINC01349,VCAM1,EXTL2,HNRNPA1P68,DPH5,LINC01307,AMY2B,AMY1A,AMY1B,LINC01676,LINC01677,VAV3-AS1,NBPF4,SLC25A24P1,NBPF6,FAM102B,FNDC7,AKNAD1,CCDC18,FNBP1L,BCAR3,ABCA4,ARHGAP29,ABCD3,SLC44A3-AS1,ALG14,TMEM56,TMEM56-RWDD3,LINC01787,PTBP2,DPYD-AS1,MIR137HG,SNX7,PLPPR5,LINC01708,FRRS1,AGL,SLC35A3,TRMT13,RTCA,CDC14A,SLC30A7,OLFM3,COL11A1,RNPC3,LINC01661,NTNG1,VAV3,SLC25A24,NBPF5P,SLC25A24P2,HENMT1,STXBP3,GPSM2,CCDC18-AS1,DPYD,LINC01709
Controls
No Control Data Available
No Animal Model Data Available