9q12CNV Type: Deletion-Duplication
Largest CNV size: 65711 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
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion-Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
65711
2
3
5
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
72134
0
7
7
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
208380
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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.
71034
1
4
5
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
62427
0
3
3
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
girirajan_11_ASD_discovery_cases-Si125
10
M
Autism
ADOS score: 8. Vineland composite score: 89.
No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 117; Non-verbal IQ, 111.
64452302
64504905
52604
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si149
13
M
Autism
ADOS score: 8. Vineland composite score: 74.
No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 131; Non-verbal IQ, 112.
64452312
64510623
58312
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si183
13
M
Autism
ADOS score: 7. Vineland composite score: 66.
No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 73; Non-verbal IQ, 102.
62828478
62883117
54640
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si183
13
M
Autism
ADOS score: 7. Vineland composite score: 66.
No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 73; Non-verbal IQ, 102.
40844496
40910207
65712
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si4
13
M
Autism
ADOS score: 6. Vineland composite score: 54.
Severe mental retardation/intellectual disability. Full-scale IQ, 34; Verbal IQ, 24; Non-verbal IQ, 39.
40845910
40902311
56402
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-16708109743
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
62811952
62883117
71166
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-19003100504
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
62811957
62880554
68598
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-24609111458
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
62820352
62883117
62766
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-31008110295
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
63828406
63900540
72135
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-31906106492
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
62820352
62883117
62766
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-38209111900
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
62809924
62861122
51199
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-44106106924
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
62811957
62866572
54616
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1149-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: yes.
Developmental delay: yes. Intellectual disability: yes.
66541522
66749901
208380
NCBI36
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
girirajan_11_ASD_discovery_controls-NIMH_166
NA
NA
Control
NA
NA
62808264
62861117
52854
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_169
NA
NA
Control
NA
NA
62808264
62861112
52849
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_196
NA
NA
Control
NA
NA
64439589
64510623
71035
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_303
NA
NA
Control
NA
NA
62809929
62861112
51184
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_304
NA
NA
Control
NA
NA
62809929
62861122
51194
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-107107567
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
62809934
62861122
51189
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-27706106372
N/A
N/A
Control
Ethnicity: Hispanic
N/A
62809919
62861122
51204
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-3008108929
N/A
N/A
Control
Ethnicity: Asian
N/A
62820352
62882779
62428
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_11_ASD_discovery_cases-Si125
Unknown
Simplex
CYP4F25P,CNN2P3,GXYLT1P6
girirajan_11_ASD_discovery_cases-Si149
Unknown
Simplex
CYP4F25P,CNN2P3,GXYLT1P6
girirajan_11_ASD_discovery_cases-Si183
Unknown
Simplex
PTGER4P2,CDK2AP2P2,MYO5BP2,ADGRF5P1
girirajan_11_ASD_discovery_cases-Si183
Unknown
Simplex
girirajan_11_ASD_discovery_cases-Si4
Unknown
Simplex
girirajan_13b_ASD_discovery_cases-16708109743
Unknown
Unknown
Unknown
LINC01410,PTGER4P2,CDK2AP2P2,MYO5BP2,ADGRF5P1
girirajan_13b_ASD_discovery_cases-19003100504
Unknown
Unknown
Unknown
LINC01410,PTGER4P2,CDK2AP2P2,MYO5BP2,ADGRF5P1
girirajan_13b_ASD_discovery_cases-24609111458
Unknown
Unknown
Unknown
PTGER4P2,CDK2AP2P2,MYO5BP2,ADGRF5P1
girirajan_13b_ASD_discovery_cases-31008110295
Unknown
Unknown
Unknown
FRG1JP
girirajan_13b_ASD_discovery_cases-31906106492
Unknown
Unknown
Unknown
PTGER4P2,CDK2AP2P2,MYO5BP2,ADGRF5P1
girirajan_13b_ASD_discovery_cases-38209111900
Unknown
Unknown
Unknown
LINC01410,PTGER4P2,CDK2AP2P2,MYO5BP2,ADGRF5P1
girirajan_13b_ASD_discovery_cases-44106106924
Unknown
Unknown
Unknown
LINC01410,PTGER4P2,CDK2AP2P2,MYO5BP2,ADGRF5P1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1149-0
Not tested by qPCR
Unknown
Unknown
Unknown
AK310876
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_11_ASD_discovery_controls-NIMH_166
Unknown
LINC01410,PTGER4P2,CDK2AP2P2,MYO5BP2,ADGRF5P1
girirajan_11_ASD_discovery_controls-NIMH_169
Unknown
LINC01410,PTGER4P2,CDK2AP2P2,MYO5BP2,ADGRF5P1
girirajan_11_ASD_discovery_controls-NIMH_196
Unknown
SNX18P9,CYP4F25P,CNN2P3,GXYLT1P6
girirajan_11_ASD_discovery_controls-NIMH_303
Unknown
LINC01410,PTGER4P2,CDK2AP2P2,MYO5BP2,ADGRF5P1
girirajan_11_ASD_discovery_controls-NIMH_304
Unknown
LINC01410,PTGER4P2,CDK2AP2P2,MYO5BP2,ADGRF5P1
girirajan_13b_ASD_discovery_controls-107107567
Unknown
LINC01410,PTGER4P2,CDK2AP2P2,MYO5BP2,ADGRF5P1
girirajan_13b_ASD_discovery_controls-27706106372
Unknown
LINC01410,PTGER4P2,CDK2AP2P2,MYO5BP2,ADGRF5P1
girirajan_13b_ASD_discovery_controls-3008108929
Unknown
PTGER4P2,CDK2AP2P2,MYO5BP2,ADGRF5P1
No Animal Model Data Available