12q15-q21.1CNV Type: Deletion
Largest CNV size: 4206336 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
van_daalen_11_ASD_discovery_cases
ASD probands selected from initial cohort of 210 preschoolers based on clinical characteristic scores. 21 probands from multiplex families, 29 probands from simplex families. Social Responsiveness Scale (SRS) administered to probands, parents, and available siblings.
50
ASD (DSM-IV-TR, ADOS-G, and ADI-R)
4206336
1
0
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
40355
0
1
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
40355
0
1
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
van_daalen_11_ASD_discovery_cases
Netherlands
Solid phase hybridization
Illumina HumanHap300 BeadChip
Beadstudio V2.3.41
FISH, BACs aCGH
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
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
van_daalen_11_ASD_discovery_cases-S3
8 yrs. 10 mos.
M
ASD
DSM-IV-TR classification: autistic disorder; ADOS-G classification: autism spectrum disorder; ADI-R classification: autistic disorder. SRS score: 76. No family history of ASD and/or intellectual disability. Intrauterine growth retardation. Postnatal growth disorder. Facial dysmorphic features, minor malformations & congenital anomalies. Family phenotypes: father's SRS score, 27; mother's SRS score, 46; brother1's SRS score, 54; brother2's SRS score, 51.
WISC-III-NL scores: non-verbal cognitive score, < 50; verbal cognitive score, 50.
68778271
72984607
4206337
GRCh38
Deletion
Yes
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_901052_901052
N/A
N/A
Control
No previous psychiatric history
71097754
71138109
40356
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11946.s1
12.9
M
Control (matched sibling)
NA
NA
71097754
71138109
40356
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
van_daalen_11_ASD_discovery_cases-S3
FISH, BACs aCGH
De novo
Simplex
NA
RNU7-4P,PRELID2P1,MIR1279,C1GALT1P1,RN7SL804P,RPS26P45,MIR3913-1,MIR3913-2,LRRC10,RNU4-65P,FAHD2P1,CHCHD3P2,SLC35E3,CPSF6,LYZ,YEATS4,LINC02373,FRS2,BEST3,RAB3IP,ZFC3H1,THAP2,RAB21,TBC1D15,TRHDE-AS1,MDM2,CPM,CCT2,MYRFL,LINC01481,KCNMB4,PTPRB,PTPRR,LGR5,TMEM19,TPH2,CNOT2,TSPAN8,TRHDE
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_901052_901052
Unknown
TSPAN8
sanders_11_ASD_discovery_controls-11946.s1
Paternal
Simplex (quad)
NA
TSPAN8
No Animal Model Data Available