4p16.2-p16.1CNV Type: Deletion
Largest CNV size: 94600 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Summary statement in development
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
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
493426
0
1
1
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
1307027
0
3
3
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
94600
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
han_22_ASD/DD/ID_discovery_cases-case19D1343
2 yrs. 9 mos.
M
Developmental delay
Facial dysmorphism, speech delay
5940573
6433998
493426
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000558
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
4810396
5212384
401989
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001943
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
4791822
5811236
1019415
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002541
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
4207414
5514441
1307028
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-12894.p1
6.8
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 79
5066062
5160662
94601
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
han_22_ASD/DD/ID_discovery_cases-case19D1343
De novo
JAKMIP1,JAKMIP1-DT,C4orf50,PPP2R2C,WFS1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000558
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MSX1,LDHAP1,RN7SKP113,CYTL1,LINC01396,STK32B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001943
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MSX1,LDHAP1,RN7SKP113,CYTL1,RN7SKP275,LINC01587,LINC01396,EVC2,EVC,CRMP1,STK32B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002541
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
STX18-IT1,RPS7P15,MSX1,LDHAP1,RN7SKP113,CYTL1,RN7SKP275,TMEM128,LYAR,ZBTB49,NSG1,STX18,STX18-AS1,LINC01396,OTOP1,STK32B
sanders_11_ASD_discovery_cases-12894.p1
Paternal
Simplex (quad-proband matched)
Segregated
STK32B
Controls
No Control Data Available
No Animal Model Data Available