19q13.32-q13.33CNV Type: Duplication
Largest CNV size: 2391631 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Rare singleton duplication within this region was found in a case from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
2391631
0
1
1
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
726063
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
33785
0
1
1
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
106914
0
1
1
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002113
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
46658791
49050450
2391660
GRCh38
Duplication
Yes
quintela_17_DD/ID_discovery_cases-caseID_486
9 yrs.
F
ASD and intellectual disability
ASD, visual deficit with congenital nystagmus
Intellectual disability
47175196
47901258
726063
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlHABC_902643_903006
N/A
N/A
Control
No previous psychiatric history
48574195
48607980
33786
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_263
NA
NA
Control
NA
NA
48507325
48614239
106915
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002113
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DACT3,RN7SL364P,MIR320E,HNRNPMP2,TMEM160,BBC3,MIR3190,MIR3191,INAFM1,RN7SL322P,BICRA-AS1,NOP53,SNORD23,SELENOW,RPL23AP80,TPRX2P,LINC01595,PLA2G4C-AS1,CARD8-AS1,EMP3,KDELR1,SPACA4,RPL18,DBP,NTN5,FUT2,MAMSTR,FUT1,FGF21,RNU6-317P,NUCB1-AS1,FTL,MIR6798,LHB,CGB3,NTF6A,NTF6G,CGB2,CGB1,NTF6B,CGB5,CGB8,PRKD2,STRN4,FKRP,SLC1A5,AP2S1,NPAS1,ZC3H4,CCDC9,C5AR2,DHX34,MEIS3,KPTN,NAPA-AS1,NAPA,ZNF541,BICRA,EHD2,NOP53-AS1,TPRX1,SULT2A1,ELSPBP1,CABP5,LIG1,ZSWIM9,ZNF114-AS1,ZNF114,CCDC114,TMEM143,GRIN2D,GRWD1,KCNJ14,CYTH2,SULT2B1,FAM83E,CA11,SEC1P,RASIP1,IZUMO1,BCAT2,HSD17B14,PLEKHA4,PPP1R15A,NUCB1,DHDH,BAX,GYS1,RUVBL2,DACT3-AS1,ARHGAP35,C5AR1,SLC8A2,CRX,BSPH1,PLA2G4C,SYNGR4,LMTK3,SPHK2,TULP2,SAE1,CARD8
quintela_17_DD/ID_discovery_cases-caseID_486
Unknown
Unknown
BBC3,MIR3190,MIR3191,INAFM1,RN7SL322P,BICRA-AS1,NOP53,SNORD23,SELENOW,RPL23AP80,TPRX2P,LINC01595,CCDC9,C5AR2,DHX34,MEIS3,KPTN,NAPA-AS1,NAPA,ZNF541,BICRA,EHD2,NOP53-AS1,TPRX1,SULT2A1,C5AR1,SLC8A2,CRX,SAE1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_902643_903006
Unknown
SPACA4,SULT2B1,FAM83E
girirajan_11_ASD_discovery_controls-NIMH_263
Unknown
SPACA4,SULT2B1,FAM83E,LMTK3
No Animal Model Data Available