1p34.2CNV Type: Deletion-Duplication
Largest CNV size: 460704 bp
Statistics Box:
Number of Reports: 16
Number of Reports: 16
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
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Overlap of autism spectrum disorder and glucose transporter 1 deficiency syndrome associated with a heterozygous deletion at the 1p34.2 region.
Deletion
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
3038
1
0
1
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
89
0
1
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
125773
0
12
12
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
148362
0
2
2
krumm_13_ASD_discovery_cases
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
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
107496
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
104476
0
2
2
lee_15_ASD/EP_discovery_cases
14-year-old Korean male patient born to healthy non-consanguineous parents with no family history of similar neurological disorders
1
Case diagnosed with autism (evaluated with ADI-R and CARS); case also with history of seizures
14 yrs.
Male
1200000
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
150202
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
460704
0
1
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
38189
0
1
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
76000
1
1
2
peycheva_18_ID/EP_discovery_cases
Patients referred by clinicians from major neurologic clinics in Bulgaria (47 cases with positive family history for developmental delay/intellectual disability and/or seizures, 45 sporadic cases)
92
Cases primarily presented with intellectual disability (99%) and epilepsy/seizures (96%), with some exhibiting behavioral abnormalities (43%), dysmorphic features (52%), delayed or absent speech (45%), microcephaly (15%), motor disorders (37%), and brain structural abnormalities (31%)
Range, 1-22 years
54.35% Male
165000
1
0
1
pfundt_16_nonNDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1430
Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
N/A
N/A
727
1
0
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
125774
0
4
4
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
51228
38
12
50
yap_21_ASD_discovery_cases
ASD probands from the Australian Autism Biobank (AAB) screened for copy number variation after quality control (QC)
723
Cases diagnosed with ASD; additional clinical assessments were adminstered and questionnaries completed, including ADOS-2, ADOS-G, and VABS-II, while cognitive functioning and IQ was assessed using MSEL or WISC-IV.
Range, 2-17 yrs.
NA
2253580
2
0
2
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
36935
0
17
17
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
27216
0
1
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
108397
0
2
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
14455
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
150202
0
1
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
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
19307
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.
143844
26
9
35
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
krumm_13_ASD_discovery_cases
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
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
lee_15_ASD/EP_discovery_cases
Korea
aCGH
Nimblegen Exon-focused 720K
Array SNP (Affymetrix 2.7M)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
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
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
peycheva_18_ID/EP_discovery_cases
Bulgarian
aCGH
Agilent SurePrint G3 Human CGH Microarray Kit, Agilent 4x180K, Agilent SurePrint G3 Unrestricted CGH ISCA v2 4x180K
Agilent Feature Extraction v12.0.1.1, OGT Cytosure Interpret v4.3
qPCR
pfundt_16_nonNDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
MLPA, MAQ
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)
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
yap_21_ASD_discovery_cases
Predominantly European with additional individuals of South Asian, East Asian, African, and other ancestries
Solid phase hybridization
Illumina Global Screening Array v1 and v2
PennCNV, iPattern
GenomeStudio v.2.0.4
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
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)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
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
brandler_18_ASD_replication_cases-caseSSC09519
N/A
M
ASD
Case from SSC_phase2 cohort
40162953
40165990
3038
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11242
NA
M
ASD
NA
NA
43605477
43605566
90
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1045_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
39718776
39844549
125774
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1347_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
40881556
40914871
33316
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14087_1510
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
40881556
40914871
33316
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14289_4100
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
40881556
40914871
33316
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14394_5030
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
40872526
40908771
36246
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case2293_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
39718776
39844549
125774
GRCh38
Duplication
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)
39718776
39844549
125774
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4240_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
40889009
40922990
33982
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5084_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
40881556
40918052
36497
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5423_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
40881556
40914871
33316
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5532_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
39718776
39844549
125774
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8737_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
40877389
40908771
31383
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU012003
Autism
39943813
40092174
148362
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU012004
Autism
39957320
40080306
122987
Unknown
Duplication
No
krumm_13_ASD_discovery_cases-case11433.p1
N/A
M
ASD
ASD proband from SSC quad family 11433. SRS score of 89.
Full-scale IQ (FSIQ) score of 78.
39740164
39847660
107497
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11433.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
39740164
39844640
104477
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13558.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
43317198
43322722
5525
GRCh38
Duplication
Yes
lee_15_ASD/EP_discovery_cases-case1
14 yrs.
M
ASD and epilepsy
Case diagnosed with autism; ADI-R scores at age of 4 to 5 years were 26 on reciprocal interaction domain (reference 10), 14 on communication domain (reference 7) and 5 on restricted/repetitive behaviors domain (reference 3); total score on Childhood Autism Rating Scale (CARS) was 38 at age of 8 years (suggestive of severe autism); total CARS score as 43 at age of 14 years. Developmental milestones: generally normal growth and development (raising head at age of 3 months, turning over in bed at age of 6 months, saying 'papa' and 'mama' at age of 1 year) until parents found that case could not sit without support at age of 1 year; walked by age of 2 years, but gait was unstable and case fell frequently; occasionally followed simple verbal commands but could not produce any intelligible words; started to perform various rhythmic stereotypic movements age age of 3 years. Motor and musculoskeletal evaluation: severe gait ataxia, postural instability, dystonia in hands and feet; deep tendon reflexes were normoacitve in all four limbs. Behavioral/psychiatric evaluation: stereotyped movements (twirling right hand over head, clapping hands). Epilepsy/seizures: developed atonic seizures at 3 months of age, which were abolished after three months of anti-epileptic treatment; developed generalized tonic seizures at age of 9 years; experienced tonic seizures once a week at age of 14 years, attacks triggered by physical fatigue and delayed mealtimes. EEG: frequent episodes of diffuse generalized bursts of fast activity followed by slow waves and spike and slow wave complexes in the bilateral anterior head regions. Brain imaging: normal brain MRI. Dysmorphic features: narrow forehead, slanted eyes, prognathism, continuously opend mouth, thin bow-shaped upper lip, thick lower lip. Growth parameters: head circumference <3rd %ile. Family history: healthy non-consanguineous parents and a brother; no family history of similar neurological disorders.
Intelligence could not be measured by standard IQ tests due to lack of interest in test material and failure to follow directions
41927054
43095561
1168508
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11667.p1
NA
M
ASD
NA
NA
42226706
42376907
150202
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-NA0074-000
NA
M
ASD
NA
NA
41328846
41789550
460705
GRCh38
Duplication
Yes
mosca_16_DCD_discovery_cases-case128203
N/A
M
DCD
Ancestry: European. Family history: maternal diagnosis DCD, ADHD and reading disorder; paternal diagnosis reading disorder.
42642349
42680537
38189
GRCh38
Duplication
No
nava_13_ASD_discovery_cases-Fam1020Proband10760
N/A
F
ASD
Additional clinical profile info N/A
ID
40495777
40544782
49006
GRCh38
Deletion
No
nava_13_ASD_discovery_cases-Fam834Proband10767
N/A
M
ASD
Additional clinical profile info N/A
ID
42099695
42175954
76260
GRCh38
Duplication
No
peycheva_18_ID/EP_discovery_cases-case270
15 yrs.
M
ID and epilepsy
Language and communication evaluation: normal. Motor and musculoskeletal evaluation: ataxia, impaired gait, asymmetric thorax. Behavioral/psychiatric evaluation: N/A. Epilepsy/seizures: generalized tonic-clonic seizures, absence seizures, myoclonic seizures, myoclonic-astatic seizures. Visual evaluation: congenital cataract, microphthalmia, convergent strabismus. Additional medical history: temporal dysplasia, hypercholesterolemia, high lactate levels, impaired glucose tolerance. Dysmorphic features: gynecomastia, backside hypopigmentation. Growth parameters: obesity.
Moderate intellectual disability
42786208
42950468
164261
GRCh38
Deletion
Yes
pfundt_16_nonNDD_discovery_cases-case113
N/A
N/A
Non-NDD
Disease cohort: blindness. Description: COL9A2 deletion
40312058
40312785
728
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case1045_3
NA
M
ASD
NA
NA
39718776
39844549
125774
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case1347_301
NA
M
ASD
NA
NA
40881556
40914871
33316
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5084_4
NA
M
ASD
NA
NA
40881556
40918052
36497
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5423_3
NA
M
ASD
NA
NA
40881556
40914871
33316
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11004.p1
15.8
M
ASD
NA
Full-scale IQ, 59; non-verbal IQ, 74; verbal IQ, 31
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11023.p1
10.4
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 110; verbal IQ, 110
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11041.p1
13
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 39; verbal IQ, 60
40556304
40566387
10084
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11168.p1
11.3
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 106; verbal IQ, 119
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11178.p1
9.3
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 119; verbal IQ, 103
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11224.p1
8.9
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 112; verbal IQ, 136
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11252.p1
6.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 96
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11256.p1
11.3
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 127; verbal IQ, 98
40881556
40914871
33316
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11297.p1
12.8
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 98; verbal IQ 73
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11324.p1
11.4
F
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 34; verbal IQ, 21
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11333.p1
9.8
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 53
40552283
40561077
8795
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11360.p1
10.9
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 108; verbal IQ, 97
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11364.p1
10.1
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 106; verbal IQ, 104
40881556
40908771
27216
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11364.p1
10.1
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 106; verbal IQ, 104
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11391.p1
15.2
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 116; verbal IQ, 113
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11394.p1
5.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 74; verbal IQ 87
40552283
40561077
8795
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11433.p1
13.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 84; verbal IQ, 96
39802696
39844549
41854
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11521.p1
17.1
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 101; verbal IQ, 128
42779653
42780974
1322
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11563.p1
6.8
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 101; verbal IQ, 110
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11564.p1
10.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 89; verbal IQ, 106
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11597.p1
12.3
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 118; verbal IQ, 128
40881556
40908771
27216
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11617.p1
15.3
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 39; verbal IQ, 27
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11673.p1
6.3
M
Aspergers
NA
Full-scale IQ, 83; non-verbal IQ, 81; verbal IQ, 92
40862628
40908771
46144
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11714.p1
6.4
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 100; verbal IQ, 99
39718250
39757468
39219
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11714.p1
6.4
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 100; verbal IQ, 99
39793321
39844549
51229
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11878.p1
9.5
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 94
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11947.p1
13.1
M
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 33; verbal IQ, 28
40881556
40908771
27216
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12003.p1
4.3
M
ASD
NA
Full-scale IQ, 115; non-verbal IQ, 120; verbal IQ, 103
40552283
40561077
8795
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12006.p1
15.3
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 104; verbal IQ, 50
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12114.p1
16.7
F
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 85; verbal IQ, 123
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12120.p1
5.1
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 115; verbal IQ, 85
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12144.p1
4.9
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 93; verbal IQ, 81
40552283
40561077
8795
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12158.p1
5.7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 100
40881556
40908771
27216
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12160.p1
8.3
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 108; verbal IQ, 86
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12208.p1
7.4
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 118; verbal IQ, 89
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12227.p1
12.4
M
Autism
NA
Full-scale IQ, 137; non-verbal IQ, 146; verbal IQ, 106
40552283
40561077
8795
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12228.p1
6.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 117; verbal IQ, 90
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12250.p1
10.8
F
Aspergers
NA
Full-scale IQ, 85; non-verbal IQ, 78; verbal IQ, 103
40556304
40561077
4774
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
39858301
39867851
9551
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12316.p1
12.5
M
ASD
NA
Full-scale IQ, 112; non-verbal IQ, 109; verbal IQ, 114
40883580
40908771
25192
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12356.p1
5.8
M
Aspergers
NA
Full-scale IQ, 113; non-verbal IQ, 104; verbal IQ, 123
40883580
40908771
25192
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12358.p1
9.3
F
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 36; verbal IQ, 36
40552283
40561077
8795
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12395.p1
5.2
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 81
40881556
40908771
27216
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12404.p1
5.1
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 50; verbal IQ, 57
40552283
40561077
8795
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12435.p1
11.2
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 51; verbal IQ, 40
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12651.p1
10.8
M
Autism
NA
Full-scale IQ, 24; non-verbal IQ, 34; verbal IQ, 14
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12691.p1
10.9
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 32; verbal IQ, 39
39858301
39867851
9551
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12924.p1
5.5
F
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 117; verbal IQ, 81
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13079.p1
9.4
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 141; verbal IQ, 128
40552283
40561077
8795
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13301.p1
13.6
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 95; verbal IQ, 124
40552283
40561077
8795
GRCh38
Deletion
No
yap_21_ASD_discovery_cases-case2202564
NA
M
ASD, intellectual disability, and epilepsy/seizures
Seizures/epilepsy; Identical twin of other child with 1p34.2 Deletion
Intellectual disablity diagnosed but with WISC-IV composite score 80 and 9th %ile
40049604
42303183
2253580
GRCh38
Deletion
No
yap_21_ASD_discovery_cases-case2202565
NA
M
ASD, intellectual disability, and epilepsy/seizures
Seizures/epilepsy; Identical twin of other child with 1p34.2 Deletion
Intellectual disability diagnosed but with WISC-IV composite score 83 and 13th %ile
40049604
42303183
2253580
GRCh38
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-controlB231021_1007853960
N/A
N/A
Control
No previous psychiatric history
40881556
40914871
33316
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB306257_1007873482
N/A
N/A
Control
No previous psychiatric history
40881556
40914871
33316
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB354907_1007854351
N/A
N/A
Control
No previous psychiatric history
40881556
40914871
33316
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB362048_1007874568
N/A
N/A
Control
No previous psychiatric history
40881556
40914871
33316
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB525253_1007854396
N/A
N/A
Control
No previous psychiatric history
40877936
40914871
36936
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB683202_1007841019
N/A
N/A
Control
No previous psychiatric history
40881556
40914871
33316
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB736147_1007871696
N/A
N/A
Control
No previous psychiatric history
40881556
40914871
33316
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB848304_1007844833
N/A
N/A
Control
No previous psychiatric history
40881556
40914871
33316
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900307_900307
N/A
N/A
Control
No previous psychiatric history
40881556
40914871
33316
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900877_900877
N/A
N/A
Control
No previous psychiatric history
40881556
40914871
33316
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901065_901065
N/A
N/A
Control
No previous psychiatric history
40881556
40914871
33316
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901187_901187
N/A
N/A
Control
No previous psychiatric history
40881556
40914871
33316
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901231_901231
N/A
N/A
Control
No previous psychiatric history
40881556
40914871
33316
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901237_901237
N/A
N/A
Control
No previous psychiatric history
40881556
40914871
33316
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901254_901254
N/A
N/A
Control
No previous psychiatric history
40881556
40914871
33316
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901260_901260
N/A
N/A
Control
No previous psychiatric history
40881556
40914871
33316
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902506_902506
N/A
N/A
Control
No previous psychiatric history
40881556
40914871
33316
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split507
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
41347228
41374443
27216
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control11433.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11433. SRS score of 45.
39738900
39847297
108398
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_controls-control11667.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11667. SRS score of 45.
42227882
42278672
50791
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11433.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
39738900
39753355
14456
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11667.s1
NA
M
Control
NA
NA
42226706
42376907
150202
GRCh38
Duplication
No
nord_11_ASD_discovery_controls-04C27500
Control
42785468
42804774
19307
Unknown
Duplication
sanders_11_ASD_discovery_controls-11110.s1
16.8
M
Control (matched sibling)
NA
NA
39858301
39867851
9551
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11172.s1
13.6
F
Control (matched sibling)
NA
NA
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11178.s1
5.1
M
Control (matched sibling)
NA
NA
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11234.s1
7.5
F
Control (matched sibling)
NA
NA
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11250.s1
12.7
F
Control (matched sibling)
NA
NA
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11256.s1
14
M
Control (matched sibling)
NA
NA
40881556
40914871
33316
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11296.s1
14
M
Control (matched sibling)
NA
NA
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11325.s1
12.3
M
Control (matched sibling)
NA
NA
40556304
40566387
10084
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11336.s1
12.9
F
Control (matched sibling)
NA
NA
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11364.s1
8.8
F
Control (matched sibling)
NA
NA
40881556
40908771
27216
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11372.s1
4
M
Control (matched sibling)
NA
NA
39718250
39729902
11653
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11490.s1
9.8
F
Control (matched sibling)
NA
NA
40881556
40908771
27216
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11521.s1
15.1
F
Control (matched sibling)
NA
NA
42773724
42780974
7251
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11569.s1
5.6
M
Control (matched sibling)
NA
NA
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11597.s1
9
M
Control (matched sibling)
NA
NA
40881556
40914871
33316
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11659.s1
4.8
F
Control (matched sibling)
NA
NA
39858301
39867851
9551
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11667.s1
8.3
M
Control (matched sibling)
NA
NA
42227926
42371770
143845
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11676.s1
4.3
F
Control (matched sibling)
NA
NA
40881556
40908771
27216
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11714.s1
4.3
M
Control (matched sibling)
NA
NA
39722441
39757468
35028
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11714.s1
4.3
M
Control (matched sibling)
NA
NA
39793321
39844549
51229
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11962.s1
7.8
M
Control (matched sibling)
NA
NA
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11964.s1
6.7
F
Control (matched sibling)
NA
NA
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12006.s1
16.9
F
Control (matched sibling)
NA
NA
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12120.s1
7.8
F
Control (matched sibling)
NA
NA
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12247.s1
6.3
F
Control (matched sibling)
NA
NA
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12250.s1
6
F
Control (matched sibling)
NA
NA
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12327.s1
16.3
F
Control (matched sibling)
NA
NA
40552283
40561077
8795
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12335.s1
4.7
F
Control (matched sibling)
NA
NA
40552283
40561077
8795
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12358.s1
6.7
M
Control (matched sibling)
NA
NA
40552283
40561077
8795
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12435.s1
9
F
Control (matched sibling)
NA
NA
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12552.s1
4.2
M
Control (matched sibling)
NA
NA
40552283
40561077
8795
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12651.s1
15.8
M
Control (matched sibling)
NA
NA
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12681.s1
12.8
F
Control (matched sibling)
NA
NA
39718250
39844549
126300
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12832.s1
4.5
F
Control (matched sibling)
NA
NA
40556304
40561077
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13168.s1
4.7
F
Control (matched sibling)
NA
NA
39802696
39810848
8153
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-caseSSC09519
No validation step reported
Maternal
RLF
celestino-soper_11_ASD_discovery_cases-11242
Unknown
Simplex
NA
PTPRF
engchuan_15_ASD_discovery_cases-case1045_3
Unknown
RNU7-121P,OXCT2,BMP8B,PPIE,TRIT1
engchuan_15_ASD_discovery_cases-case1347_301
Unknown
engchuan_15_ASD_discovery_cases-case14087_1510
Unknown
engchuan_15_ASD_discovery_cases-case14289_4100
Unknown
engchuan_15_ASD_discovery_cases-case14394_5030
Unknown
engchuan_15_ASD_discovery_cases-case2293_1
Unknown
RNU7-121P,OXCT2,BMP8B,PPIE,TRIT1
engchuan_15_ASD_discovery_cases-case4152_1
Unknown
RNU7-121P,OXCT2,BMP8B,PPIE,TRIT1
engchuan_15_ASD_discovery_cases-case4240_1
Unknown
engchuan_15_ASD_discovery_cases-case5084_4
Unknown
engchuan_15_ASD_discovery_cases-case5423_3
Unknown
engchuan_15_ASD_discovery_cases-case5532_3
Unknown
RNU7-121P,OXCT2,BMP8B,PPIE,TRIT1
engchuan_15_ASD_discovery_cases-case8737_202
Unknown
gai_11_ASD_replication_cases-AU012003
Inherited
PPIE, BMP8B, OXCT2, TRIT1
gai_11_ASD_replication_cases-AU012004
Inherited
PPIE, BMP8B, OXCT2, TRIT1
krumm_13_ASD_discovery_cases-case11433.p1
Paternal
Simplex
Not segregated
OXCT2,BMP8B,PPIE,TRIT1
krumm_15_ASD_discovery_cases-case11433.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
OXCT2,BMP8B,PPIE,TRIT1
krumm_15_ASD_discovery_cases-case13558.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
TIE1
lee_15_ASD/EP_discovery_cases-case1
Array SNP (Affymetrix Cytogenetics 2.7Mb)
Unknown
Simplex
Possibly segregated
GUCA2B,GUCA2A,TMSB4XP1,RNU6-536P,CLDN19,ZNF691,ATP6V1E1P1,ATP6V0CP4,RNU6-880P,HNRNPFP1,RIMKLA,ZMYND12,PPIH,YBX1,P3H1,C1orf50,TMEM269,SVBP,ERMAP,SLC2A1,SLC2A1-AS1,FOXJ3,PPCS,CCDC30,HIVEP3
levy_11_ASD_discovery_cases-11667.p1
Paternal
Simplex
Not segregated
FOXJ3
marshall_08_ASD_discovery_cases-NA0074-000
qPCR, qmPCR
Unknown
NA
NA
RNA5SP45,FOXO6,EDN2,HIVEP3
mosca_16_DCD_discovery_cases-case128203
Unknown
Multi-generational
Unknown
PPIH,CCDC30
nava_13_ASD_discovery_cases-Fam1020Proband10760
Paternal
Simplex
Unknown
EXO5,ZFP69,ZNF684
nava_13_ASD_discovery_cases-Fam834Proband10767
Paternal
Simplex
Unknown
GUCA2B,GUCA2A
peycheva_18_ID/EP_discovery_cases-case270
qPCR
De novo
ZNF691,ATP6V1E1P1,TMEM269,SVBP,ERMAP,SLC2A1
pfundt_16_nonNDD_discovery_cases-case113
MLPA or MAQ
COL9A2
pinto_10_ASD_discovery_cases-case1045_3
Illumina550;Affy5.0
paternal
NA
NA
RNU7-121P,OXCT2,BMP8B,PPIE,TRIT1
pinto_10_ASD_discovery_cases-case1347_301
Illumina550
maternal
NA
NA
pinto_10_ASD_discovery_cases-case5084_4
Agilent1M
pcnv-paternal
NA
NA
pinto_10_ASD_discovery_cases-case5423_3
Agilent1M
maternal
NA
NA
sanders_11_ASD_discovery_cases-11004.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11023.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11041.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11168.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11178.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11224.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11252.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11256.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11297.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11324.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11333.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11360.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11364.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11364.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11391.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11394.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11433.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TRIT1
sanders_11_ASD_discovery_cases-11521.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11563.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11564.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11597.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11617.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11673.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11714.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU7-121P,BMP8B,PPIE
sanders_11_ASD_discovery_cases-11714.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TRIT1
sanders_11_ASD_discovery_cases-11878.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11947.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12003.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12006.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12114.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12120.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12144.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12158.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12160.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12208.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12227.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12228.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12250.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12261.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TRIT1
sanders_11_ASD_discovery_cases-12316.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12356.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12358.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12395.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12404.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12435.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12651.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12691.p1
Unknown
Simplex (quad-proband matched)
Not segregated
TRIT1
sanders_11_ASD_discovery_cases-12924.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13079.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13301.p1
Maternal
Simplex (quad-proband matched)
Not segregated
yap_21_ASD_discovery_cases-case2202564
Unknown
Multiplex
COL9A2,CTPS1,EDN2,HIVEP3,EXO5,ZFP69B,SMAP2,TMCO2,ZNF684,SLFNL1,CITED4,GUCA2A,GUCA2B,ZFP69,MIR30C1,MIR30E,HNRNPFP1,GTF2F2P2,OAZ1P1,NFYC-AS1,NFYC,FOXO6,RPL23AP17,SLFNL1-AS1,RNA5SP45,PPT1,RLF,FOXO6-AS1,UBE2V1P8,RN7SL326P,RNU6-1237P,RIMS3,KCNQ4,CAP1,FOXJ3,ZMPSTE24,SCMH1
yap_21_ASD_discovery_cases-case2202565
Unknown
Multiplex
COL9A2,CTPS1,EDN2,HIVEP3,EXO5,ZFP69B,SMAP2,TMCO2,ZNF684,SLFNL1,CITED4,GUCA2A,GUCA2B,ZFP69,MIR30C1,MIR30E,HNRNPFP1,GTF2F2P2,OAZ1P1,NFYC-AS1,NFYC,FOXO6,RPL23AP17,SLFNL1-AS1,RNA5SP45,PPT1,RLF,FOXO6-AS1,UBE2V1P8,RN7SL326P,RNU6-1237P,RIMS3,KCNQ4,CAP1,FOXJ3,ZMPSTE24,SCMH1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB231021_1007853960
Unknown
engchuan_15_ASD_discovery_controls-controlB306257_1007873482
Unknown
engchuan_15_ASD_discovery_controls-controlB354907_1007854351
Unknown
engchuan_15_ASD_discovery_controls-controlB362048_1007874568
Unknown
engchuan_15_ASD_discovery_controls-controlB525253_1007854396
Unknown
engchuan_15_ASD_discovery_controls-controlB683202_1007841019
Unknown
engchuan_15_ASD_discovery_controls-controlB736147_1007871696
Unknown
engchuan_15_ASD_discovery_controls-controlB848304_1007844833
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900307_900307
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900877_900877
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901065_901065
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901187_901187
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901231_901231
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901237_901237
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901254_901254
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901260_901260
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902506_902506
Unknown
kanduri_15_ASD_discovery_controls-control_split507
Unknown
Intergenic CNV: nearest genes, CITED4(dist=19210),CTPS1(dist=70564)
krumm_13_ASD_discovery_controls-control11433.s1
aCGH (Agilent SurePrint G3 4x180K)
Paternal
Simplex
OXCT2,BMP8B,PPIE,TRIT1
krumm_13_ASD_discovery_controls-control11667.s1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Paternal
Simplex
FOXJ3
krumm_15_ASD_discovery_controls-control11433.s1
Illumina 1MDuo
Paternal
PPIE
levy_11_ASD_discovery_controls-11667.s1
Paternal
Simplex
NA
FOXJ3
nord_11_ASD_discovery_controls-04C27500
CCDC30
sanders_11_ASD_discovery_controls-11110.s1
Paternal
Simplex (quad)
NA
TRIT1
sanders_11_ASD_discovery_controls-11172.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11178.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11234.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11250.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11256.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11296.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11325.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11336.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11364.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11372.s1
Paternal
Simplex (quad)
NA
RNU7-121P,PPIE
sanders_11_ASD_discovery_controls-11490.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11521.s1
Paternal
Simplex (quad)
NA
C1orf50
sanders_11_ASD_discovery_controls-11569.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11597.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11659.s1
Unknown
Simplex (quad)
NA
TRIT1
sanders_11_ASD_discovery_controls-11667.s1
Paternal
Simplex (quad)
NA
FOXJ3
sanders_11_ASD_discovery_controls-11676.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11714.s1
Maternal
Simplex (quad)
NA
RNU7-121P,BMP8B,PPIE
sanders_11_ASD_discovery_controls-11714.s1
Maternal
Simplex (quad)
NA
TRIT1
sanders_11_ASD_discovery_controls-11962.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11964.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12006.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12120.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12247.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12250.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12327.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12335.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12358.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12435.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12552.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12651.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12681.s1
Paternal
Simplex (quad)
NA
RNU7-121P,OXCT2,BMP8B,PPIE,TRIT1
sanders_11_ASD_discovery_controls-12832.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13168.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available