1q21.2-q21.3CNV Type: Duplication
Largest CNV size: 74526 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
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.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engwerda_18_ASD/DD/ID_discovery_cases
Newly identified individuals with proximal 6q deletions recruited by the Chromosome 6 Project
20
Developmental delay, intellectual disability, autism spectrum disorder, connective tissue disorders, and/or heart defects were among the most frequently observed phenotypes in this cohort
Median age: 5 years 5 months
65.0% Male
417645
0
1
1
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
74526
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
78555
0
1
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engwerda_18_ASD/DD/ID_discovery_cases
European
aCGH, array SNP, solid phase hybridization
Affymetrix, Agilent, BlueGnome, CMA (OLIGO V6.4), Illumina, Oligo HD Scan
None
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
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
engwerda_18_ASD/DD/ID_discovery_cases-caseId102
N/A
N/A
ASD and developmental delay
Case presents with ASD and developmental delay
150193583
150598509
404927
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12691.p1
10.9
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 32; verbal IQ, 39
151360691
151435217
74527
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
sanders_11_ASD_discovery_controls-11150.s1
6.5
M
Control (matched sibling)
NA
NA
151356662
151435217
78556
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engwerda_18_ASD/DD/ID_discovery_cases-caseId102
No validation reported
Paternal
RN7SL480P,RNU2-17P,APH1A,CIART,MIR6878,ECM1,FALEC,MIR4257,RN7SL473P,RN7SL600P,MCL1,ANP32E,CA14,C1orf54,MRPS21,TARS2,ADAMTSL4,ADAMTSL4-AS1,PRPF3,RPRD2
sanders_11_ASD_discovery_cases-12691.p1
Maternal
Simplex (quad-proband matched)
Segregated
PSMB4,SELENBP1,POGZ
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-11150.s1
Paternal
Simplex (quad)
NA
PSMB4,SELENBP1,POGZ
No Animal Model Data Available