2q32.3CNV Type: Deletion-Duplication
Largest CNV size: 450000 bp
Statistics Box:
Number of Reports: 12
Number of Reports: 12
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Infantile spasms are associated with abnormal copy number variations.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
450000
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
161327
11
1
12
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
53375
1
0
1
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
255086
0
1
1
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
512437
5
1
6
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
33101
1
0
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
3198098
2
0
2
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
500000
0
1
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
47248
0
1
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
73764
0
1
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
524477
3
2
5
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
146783
23
1
24
tiwari_12_EP_discovery_cases
Patients with infantile spasms assessed at Wayne State University (Detroit, MI, USA)
13
Epilepsy (infantile spasms). Additional phenotypic features: developmental delay, autistic features, hypotonia/ataxia, and dysmorphic features.
NA
38.46% Male
421249
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
450000
0
0
0
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
277641
18
1
19
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
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
133792
1
0
1
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
348082
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
348082
1
0
1
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
73803
0
1
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
524477
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
541167
20
3
23
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
christian_08_ASD_discovery_cases
235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
aCGH
RPCI 19K BAC microarray
FISH, microsatellite, qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
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
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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
tiwari_12_EP_discovery_cases
NA
Solid phase hybridization
Illumina 610Quad
SVS
Illumina BeadStudio, SVS
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
christian_08_ASD_discovery_controls
262 Caucasians, 100 African-Americans
aCGH
RPCI 19K BAC microarray
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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
christian_08_ASD_discovery_cases-AU048304
NA
F
ASD
NA
NA
193994075
194450736
456662
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case13080_943
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
194047743
194120786
73044
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14199_3230
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
194047743
194120786
73044
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14315_4320
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
192800106
192961433
161328
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case1956_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
194807675
194926896
119222
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20177_1698001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
194047743
194120786
73044
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3022_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
192901083
192976019
74937
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3183_7
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
194028821
194120786
91966
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4152_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
194033976
194120786
86811
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5049_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
194012106
194065682
53577
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5388_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
194464959
194538722
73764
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6264_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
194657235
194700969
43735
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8578_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
194944894
195025020
80127
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-case000027
N/A
N/A
N/A
Clinical profile N/A; CNV from Supplementary Table S33
N/A
192513054
192566429
53376
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1307302
Autism
191672878
191927963
255086
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU002804
Autism
193587161
193808515
221355
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU005504
Autism
193587161
193844067
256907
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU046503
Autism
193587161
193844067
256907
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU048303
Autism
194548695
195061131
512437
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU048304
Autism
194585075
195061131
476057
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU0962301
Autism
192013259
192326614
313356
Unknown
Duplication
No
gazzellone_14_ASD_discovery_cases-case539-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
193703529
193736630
33102
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000827
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
195270237
195722242
452006
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004574
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
192170510
195368610
3198101
GRCh38
Deletion
Yes
leppa_16_ASD_discovery_cases-AU3306301
N/A
F
ASD
194254276
194762276
508001
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-NA0007-000
NA
M
ASD
NA
NA
194479770
194527017
47248
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5388_3
NA
M
ASD
NA
NA
194464959
194538722
73764
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case155493L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
193105088
193629564
524477
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case155571L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
192702651
192942666
240016
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case47010
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
194588424
194639764
51341
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case50611
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
195033878
195102272
68395
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case56040
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
192942266
193105488
163223
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11158.p1
10.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
191366859
191389563
22705
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11219.p1
8.8
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 100; verbal IQ, 98
191253956
191266314
12359
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11289.p1
6
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 98; verbal IQ, 62
193716629
193736561
19933
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11357.p1
9.5
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 112; verbal IQ, 91
194807675
194833510
25836
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11387.p1
8.4
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 128; verbal IQ 89
193181569
193262566
80998
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11390.p1
8.3
F
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 77; verbal IQ, 57
194417258
194501360
84103
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11721.p1
4.8
M
ASD
NA
Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
194807675
194833510
25836
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11753.p1
17.3
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 100; verbal IQ, 128
194597071
194714569
117499
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11782.p1
5.3
F
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 59; verbal IQ, 64
194047743
194125810
78068
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11846.p1
15.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
191366151
191414601
48451
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11959.p1
7.9
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 79; verbal IQ, 49
194047743
194120786
73044
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12009.p1
6.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
191385817
191389563
3747
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12030.p1
6.8
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 101
194047743
194129304
81562
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12197.p1
5.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 103
191867467
191906188
38722
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12261.p1
16.3
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 73
194047743
194120786
73044
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12334.p1
8.9
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 75
194017470
194164253
146784
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12415.p1
12.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 89
194047743
194125810
78068
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12444.p1
9.5
F
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 59; verbal IQ, 79
193379097
193391704
12608
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12623.p1
6.7
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 98; verbal IQ, 95
194047743
194120786
73044
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12748.p1
6.4
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 95; verbal IQ, 93
194040918
194129844
88927
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12843.p1
6.2
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 101; verbal IQ, 84
191366859
191389563
22705
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12972.p1
10.8
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 63
191366859
191389563
22705
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13039.p1
6.3
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 135; verbal IQ, 93
192791972
192875334
83363
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13382.p1
4.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 74; verbal IQ, 83
194807675
194839520
31846
GRCh38
Deletion
No
tiwari_12_EP_discovery_cases-patient3
2 yrs.
F
Epilepsy
Age of onset of seizures: 4 months. EEG: hypsarrhythmia (at 5 months); bifrontal interictal spike and slow wave discharges (at 2 yrs.). Brain imaging: thin corpus callosum, diffuse abnormal migrational pattern with microcephaly, diffuse pachygyria and possible polymicrogyria on MRI/MRS; multifocal cortical hypometabolism on PET. Clinical characteristics and comorbidities: developmental delay, gastroesophageal refulx, hiatal hernia, bilateral ankle clonus.
Developmental delay
194953354
195374603
421249
Unknown
Deletion
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-control110036023448_
N/A
N/A
Control
No previous psychiatric history
194040918
194120786
79869
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036024040_
N/A
N/A
Control
No previous psychiatric history
194040918
194120786
79869
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB325256_1007852948
N/A
N/A
Control
No previous psychiatric history
194047743
194120786
73044
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB439994_1007852600
N/A
N/A
Control
No previous psychiatric history
194047743
194120786
73044
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB471729_1007842233
N/A
N/A
Control
No previous psychiatric history
194047743
194120786
73044
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB723560_1007875281
N/A
N/A
Control
No previous psychiatric history
194866205
194963898
97694
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB815347_1007872302
N/A
N/A
Control
No previous psychiatric history
193431569
193563602
132034
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900014_900014
N/A
N/A
Control
No previous psychiatric history
194576294
194612703
36410
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900338_900338
N/A
N/A
Control
No previous psychiatric history
194047743
194120786
73044
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900447_900447
N/A
N/A
Control
No previous psychiatric history
194063450
194213480
150031
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900496_900496
N/A
N/A
Control
No previous psychiatric history
194944894
195025020
80127
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900909_900909
N/A
N/A
Control
No previous psychiatric history
192984924
193262566
277643
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901186_901186
N/A
N/A
Control
No previous psychiatric history
194047743
194120786
73044
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902547_902547
N/A
N/A
Control
No previous psychiatric history
192501707
192535528
33822
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902651_902651
N/A
N/A
Control
No previous psychiatric history
194098928
194192014
93087
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902691_902691
N/A
N/A
Control
No previous psychiatric history
192514667
192570735
56069
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902744_902744
N/A
N/A
Control
No previous psychiatric history
192976019
193089732
113714
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902815_902815
N/A
N/A
Control
No previous psychiatric history
193814476
193871304
56829
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902816_902816
N/A
N/A
Control
No previous psychiatric history
192479338
192607304
127967
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1369
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
193724767
193858558
133792
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control12851.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12851. SRS score of 41.
191846442
192194524
348083
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12851.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
191846442
192194524
348083
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_controls-control05C42636A
N/A
F
Control
NIMH Control (NIMH ID 60108)
191350160
191423962
73803
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11010.s1
7.7
M
Control (matched sibling)
NA
NA
194047743
194129844
82102
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11101.s1
6.7
F
Control (matched sibling)
NA
NA
194017470
194187590
170121
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11158.s1
11.6
M
Control (matched sibling)
NA
NA
191366859
191389563
22705
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11219.s1
7
F
Control (matched sibling)
NA
NA
191253956
191259078
5123
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11634.s1
9.9
M
Control (matched sibling)
NA
NA
194056140
194092151
36012
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11794.s1
4.3
F
Control (matched sibling)
NA
NA
191366859
191389563
22705
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12015.s1
9
F
Control (matched sibling)
NA
NA
191385817
191389563
3747
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12036.s1
5.9
F
Control (matched sibling)
NA
NA
194807675
194833510
25836
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12068.s1
14.1
M
Control (matched sibling)
NA
NA
196352311
196421890
69580
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12184.s1
10.4
F
Control (matched sibling)
NA
NA
191366859
191389563
22705
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12197.s1
5.8
F
Control (matched sibling)
NA
NA
191867467
191906188
38722
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12233.s1
6.8
F
Control (matched sibling)
NA
NA
194047743
194125810
78068
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12261.s1
21.5
M
Control (matched sibling)
NA
NA
191366859
191389563
22705
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12424.s1
6.2
F
Control (matched sibling)
NA
NA
195090010
195155978
65969
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12444.s1
7
M
Control (matched sibling)
NA
NA
193379097
193391704
12608
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12463.s1
12.3
F
Control (matched sibling)
NA
NA
193800591
194249068
448478
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12582.s1
9.2
M
Control (matched sibling)
NA
NA
191385817
191389563
3747
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12851.s1
5.8
M
Control (matched sibling)
NA
NA
191846436
192387603
541168
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12944.s1
4.8
M
Control (matched sibling)
NA
NA
194888533
194911500
22968
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12964.s1
8.5
M
Control (matched sibling)
NA
NA
193975726
194079678
103953
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12972.s1
7.2
F
Control (matched sibling)
NA
NA
191366859
191389563
22705
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13195.s1
10.1
M
Control (matched sibling)
NA
NA
191385817
191389563
3747
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13296.s1
4.3
F
Control (matched sibling)
NA
NA
191379667
191393267
13601
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
christian_08_ASD_discovery_cases-AU048304
FISH, microsatellite
inherited
Multiplex
NA
GLULP6,HNRNPA1P47,LINC01821
engchuan_15_ASD_discovery_cases-case13080_943
Unknown
engchuan_15_ASD_discovery_cases-case14199_3230
Unknown
engchuan_15_ASD_discovery_cases-case14315_4320
Unknown
engchuan_15_ASD_discovery_cases-case1956_302
Unknown
engchuan_15_ASD_discovery_cases-case20177_1698001
Unknown
engchuan_15_ASD_discovery_cases-case3022_4
Unknown
engchuan_15_ASD_discovery_cases-case3183_7
Unknown
engchuan_15_ASD_discovery_cases-case4152_1
Unknown
engchuan_15_ASD_discovery_cases-case5049_5
Unknown
engchuan_15_ASD_discovery_cases-case5388_3
Unknown
engchuan_15_ASD_discovery_cases-case6264_3
Unknown
engchuan_15_ASD_discovery_cases-case8578_201
Unknown
fitzgerald_14_ASD/DD/ID_discovery_cases-case000027
De novo
Unknown
Unknown
gai_11_ASD_discovery_cases-AU1307302
Inherited
STAT4, MYO1B
gai_11_ASD_replication_cases-AU002804
Inherited
0 genes
gai_11_ASD_replication_cases-AU005504
Inherited
0 genes
gai_11_ASD_replication_cases-AU046503
Inherited
0 genes
gai_11_ASD_replication_cases-AU048303
Inherited
0 genes
gai_11_ASD_replication_cases-AU048304
Inherited
0 genes
gai_11_ASD_replication_cases-AU0962301
Inherited
OBFC2A
gazzellone_14_ASD_discovery_cases-case539-3
Unknown
Unknown
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000827
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNU6-169P,LINC01825,LINC01827,AHCYP5,RNU6-915P,SLC39A10
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004574
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GLULP6,HNRNPA1P47,PCGEM1,RPS17P8,LINC01790,TMEFF2,LINC01821
leppa_16_ASD_discovery_cases-AU3306301
Maternal
Simplex
Unknown
LINC01790,LINC01821
marshall_08_ASD_discovery_cases-NA0007-000
qPCR, qmPCR
Unknown
NA
NA
pinto_10_ASD_discovery_cases-case5388_3
Agilent1M
paternal
NA
NA
prasad_12_ASD_discovery_cases-case155493L
Unknown
Unknown
Unknown
PCGEM1
prasad_12_ASD_discovery_cases-case155571L
Unknown
Unknown
Unknown
TMEFF2
prasad_12_ASD_discovery_cases-case47010
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case50611
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case56040
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11158.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU6-1045P,MYO1B
sanders_11_ASD_discovery_cases-11219.p1
Unknown
Simplex (quad-proband matched)
Segregated
MYO1B
sanders_11_ASD_discovery_cases-11289.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11357.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11387.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11390.p1
Unknown
Simplex (quad-proband matched)
Not segregated
LINC01821
sanders_11_ASD_discovery_cases-11721.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11753.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11782.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11846.p1
Unknown
Simplex (trio)
NA
RNU6-1045P,MYO1B
sanders_11_ASD_discovery_cases-11959.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12009.p1
Both parents
Simplex (trio)
NA
MYO1B
sanders_11_ASD_discovery_cases-12030.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12197.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DNAJB1P1
sanders_11_ASD_discovery_cases-12261.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12334.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GLULP6
sanders_11_ASD_discovery_cases-12415.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12444.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12623.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12748.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GLULP6
sanders_11_ASD_discovery_cases-12843.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
RNU6-1045P,MYO1B
sanders_11_ASD_discovery_cases-12972.p1
Both parents
Simplex (quad-proband matched)
Not segregated
RNU6-1045P,MYO1B
sanders_11_ASD_discovery_cases-13039.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13382.p1
Maternal
Simplex (trio)
NA
tiwari_12_EP_discovery_cases-patient3
Paternal
Unknown
Unknown
0 genes
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036023448_
Unknown
engchuan_15_ASD_discovery_controls-control110036024040_
Unknown
engchuan_15_ASD_discovery_controls-controlB325256_1007852948
Unknown
engchuan_15_ASD_discovery_controls-controlB439994_1007852600
Unknown
engchuan_15_ASD_discovery_controls-controlB471729_1007842233
Unknown
engchuan_15_ASD_discovery_controls-controlB723560_1007875281
Unknown
engchuan_15_ASD_discovery_controls-controlB815347_1007872302
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900014_900014
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900338_900338
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900447_900447
Unknown
GLULP6,HNRNPA1P47
engchuan_15_ASD_discovery_controls-controlHABC_900496_900496
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900909_900909
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901186_901186
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902547_902547
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902651_902651
Unknown
GLULP6,HNRNPA1P47
engchuan_15_ASD_discovery_controls-controlHABC_902691_902691
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902744_902744
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902815_902815
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902816_902816
Unknown
kanduri_15_ASD_discovery_controls-control_split1369
Unknown
Intergenic CNV: nearest genes, PCGEM1(dist=83142)
krumm_13_ASD_discovery_controls-control12851.s1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
DNAJB1P1,CAVIN2,TMEFF2
krumm_15_ASD_discovery_controls-control12851.s1
Illumina 1MDuo
Maternal
DNAJB1P1,CAVIN2,TMEFF2
poultney_13_ASD_discovery_controls-control05C42636A
Unknown
RNU6-1045P,MYO1B
sanders_11_ASD_discovery_controls-11010.s1
Maternal
Simplex (quad)
NA
GLULP6
sanders_11_ASD_discovery_controls-11101.s1
Maternal
Simplex (quad)
NA
GLULP6,HNRNPA1P47
sanders_11_ASD_discovery_controls-11158.s1
Maternal
Simplex (quad)
NA
RNU6-1045P,MYO1B
sanders_11_ASD_discovery_controls-11219.s1
Maternal
Simplex (quad)
NA
MYO1B
sanders_11_ASD_discovery_controls-11634.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11794.s1
Maternal
Simplex (quad)
NA
RNU6-1045P,MYO1B
sanders_11_ASD_discovery_controls-12015.s1
Unknown
Simplex (quad)
NA
MYO1B
sanders_11_ASD_discovery_controls-12036.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12068.s1
Maternal
Simplex (quad)
NA
HECW2
sanders_11_ASD_discovery_controls-12184.s1
Unknown
Simplex (quad)
NA
RNU6-1045P,MYO1B
sanders_11_ASD_discovery_controls-12197.s1
Maternal
Simplex (quad)
NA
DNAJB1P1
sanders_11_ASD_discovery_controls-12233.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12261.s1
Maternal
Simplex (quad)
NA
RNU6-1045P,MYO1B
sanders_11_ASD_discovery_controls-12424.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12444.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12463.s1
Unknown
Simplex (quad)
NA
GLULP6,HNRNPA1P47
sanders_11_ASD_discovery_controls-12582.s1
Unknown
Simplex (quad)
NA
MYO1B
sanders_11_ASD_discovery_controls-12851.s1
Maternal
Simplex (quad)
NA
DNAJB1P1,CAVIN2,TMEFF2
sanders_11_ASD_discovery_controls-12944.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12964.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12972.s1
Both parents
Simplex (quad)
NA
RNU6-1045P,MYO1B
sanders_11_ASD_discovery_controls-13195.s1
Unknown
Simplex (quad)
NA
MYO1B
sanders_11_ASD_discovery_controls-13296.s1
Paternal
Simplex (quad)
NA
MYO1B
No Animal Model Data Available