12q21.2CNV Type: Deletion-Duplication
Largest CNV size: 125136 bp
Statistics Box:
Number of Reports: 11
Number of Reports: 11
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.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
3349
1
0
1
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
5251
3
0
3
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
124006
3
2
5
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
64952
2
0
2
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
116203
0
2
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
34082
0
4
4
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
237000
0
3
3
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
125136
1
0
1
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
200000
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
124007
3
0
3
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
78939
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
124521
2
0
2
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
95414
6
9
15
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
42710
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
20737
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
16021
0
3
3
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
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)
124521
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.
95414
5
6
11
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
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
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
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)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
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
None
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
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
brandler_18_ASD_discovery_cases-caseSSC07026
N/A
M
ASD
Case from SSC cohort
76950148
76953497
3350
GRCh38
Deletion
Yes
brandler_18_ASD_replication_cases-case5-0116-003
N/A
M
ASD
Case from MSSNG cohort
76764982
76765497
516
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU0452303
N/A
M
ASD
Case from MSSNG cohort
78122791
78128041
5251
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU0452304
N/A
M
ASD
Case from MSSNG cohort
78122791
78128041
5251
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case1763_311
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
76637429
76698628
61200
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3550_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
79722153
79821121
98969
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5227_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
78288143
78321331
33189
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5435_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
78352713
78476719
124007
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5523_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
79722153
79821121
98969
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1245311
Autism
75556760
75616539
59780
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1245312
Autism
75551588
75616539
64952
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU024003
Autism
74583559
74699761
116203
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU024004
Autism
74590026
74699761
109736
Unknown
Duplication
No
krumm_15_ASD_discovery_cases-case13038.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
79775928
79810010
34083
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14151.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
75498657
75508448
9792
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14270.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
75498693
75508446
9754
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14424.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
75498657
75511607
12951
GRCh38
Duplication
Yes
maini_18_ASD/DD/ID_discovery_cases-case104
12 yrs.
F
Language delay, language disorder, and learning disorder
Birth history: born at 40 weeks gestation, no reported pregnancy anomalies. Developmental milestones: language delay. Language and communication evaluation: language disorder. Musculoskeletal evaluation: brachydactyly, clinodactyly F5, short and large feet with large toes. Behavioral/psychiatric evaluation: behavioral anomalies. Epilepsy/abnormal EEG: no reported epilepsy or EEG abnormalities. Additional medical history: congenital heart defects, ocular anomalies. Dysmorphic features: arched and tight eyebrows, blepharophimosis, ptosis, epicanthus inversus, telecanthus, bulbous nose, posteriorly rotated ears with overfolded helices. Growth parameters: normal head circumference, short stature. Family history: negative for consanguineity, positive for familiarity, family history positive for NDDs.
Learning disorder (no intellectual disability)
77920666
78158245
237580
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case192
2 yrs.
M
Dysmorphic features and kidney malformations
Birth history: born at 40 weeks gestation, no reported pregnancy anomalies. Developmental milestones: no motor or language delay. Language and communication evaluation: no language disorder or absent speech. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: no reported epilepsy or EEG abnormalities. Additional medical history: kidney malformations. Dysmorphic features: unilateral ptosis, epicanthus, tented upper lip. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, positive for familiarity, family history positive for NDDs.
Normal (no intellectual disability or learning disorder)
77920666
78158245
237580
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case193
9 yrs.
M
Language delay and language disorder
Birth history: born at 38 weeks gestation, no reported pregnancy anomalies. Developmental milestones: language delay. Language and communication evaluation: language disorder. Musculoskeletal evaluation: 5th finger clinodactyly, bulbous hallux of the toes. Behavioral/psychiatric evaluation: behavioral anomalies. Epilepsy/abnormal EEG: no reported epilepsy or EEG abnormalities. Dysmorphic features: bilateral ptosis, epicanthus, hypertelorism, posteriorly rotated ears with thick helices. Growth parameters: normal head circumference, short stature. Family history: negative for consanguineity, positive for familiarity, family history positive for NDDs.
Normal (no intellectual disability or learning disorder)
77920666
78158245
237580
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-SK0305-003
NA
F
ASD
NA
NA
78343017
78468152
125136
GRCh38
Deletion
Yes
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530954
F
MCA
Abnormality of the vasculature (HP:0002597), abnormal facial shape (HP:0001999), orofacial cleft (HP:0000202)
78876191
79076190
200000
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case1763_311
NA
M
ASD
NA
NA
76637429
76698628
61200
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5227_4
NA
F
ASD
NA
NA
78288143
78321331
33189
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5435_4
NA
F
ASD
NA
NA
78352713
78476719
124007
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case18091_301
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
76211130
76290076
78947
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case117395L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
77202263
77233504
31242
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case78621
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
77268851
77393371
124521
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11012.p1
8.8
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 80; verbal IQ, 83
79761820
79766450
4631
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11047.p1
10.4
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 74; verbal IQ, 36
79761820
79766450
4631
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11079.p1
11.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 48; verbal IQ, 63
79761820
79766450
4631
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11159.p1
12.9
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 109; verbal IQ, 130
79761820
79766450
4631
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11224.p1
8.9
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 112; verbal IQ, 136
79761820
79766450
4631
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11532.p1
9.1
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 65; verbal IQ, 60
78163311
78169590
6280
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11544.p1
15.5
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 112; verbal IQ, 113
78092214
78095219
3006
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11565.p1
10.8
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ, 109
79761820
79766450
4631
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11734.p1
13.8
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
78163311
78169590
6280
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12235.p1
8.8
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 78; verbal IQ, 86
79761820
79766450
4631
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12320.p1
8.5
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 100
76567913
76663327
95415
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12331.p1
12.3
M
Aspergers
NA
Full-scale IQ, 115; non-verbal IQ, 114; verbal IQ, 111
77430744
77436345
5602
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12392.p1
7
M
ASD
NA
Full-scale IQ, 103; non-verbal IQ, 102; verbal IQ, 105
78163311
78169590
6280
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12518.p1
5.8
M
ASD
NA
Full-scale IQ, 88; non-verbal IQ, 95; verbal IQ, 83
75593580
75636136
42557
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
78163311
78169590
6280
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-controlB885552_1007853677
N/A
N/A
Control
No previous psychiatric history
78559061
78601771
42711
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control12716.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12716. SRS score of 56.
79796781
79817518
20738
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control13981.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
75498693
75511597
12905
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14151.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
75498693
75511597
12905
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14424.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
75495576
75511597
16022
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-11029.s1
7.8
M
Control (matched sibling)
NA
NA
76547658
76566967
19310
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11304.s1
8.3
F
Control (matched sibling)
NA
NA
79761820
79766450
4631
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11511.s1
9
M
Control (matched sibling)
NA
NA
79761820
79766450
4631
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11544.s1
17.7
M
Control (matched sibling)
NA
NA
78090341
78095219
4879
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12083.s1
5.5
F
Control (matched sibling)
NA
NA
79761820
79766450
4631
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12320.s1
23.3
F
Control (matched sibling)
NA
NA
76567913
76663327
95415
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12457.s1
5.6
M
Control (matched sibling)
NA
NA
79756950
79766450
9501
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12460.s1
7
M
Control (matched sibling)
NA
NA
78163311
78170113
6803
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12518.s1
4.7
F
Control (matched sibling)
NA
NA
75593580
75636136
42557
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12735.s1
9.1
M
Control (matched sibling)
NA
NA
78559061
78598360
39300
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13187.s1
6
M
Control (matched sibling)
NA
NA
78160748
78169590
8843
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseSSC07026
SNP VCF
De novo
brandler_18_ASD_replication_cases-case5-0116-003
No validation step reported
Maternal
ZDHHC17
brandler_18_ASD_replication_cases-caseAU0452303
No validation step reported
Maternal
NAV3
brandler_18_ASD_replication_cases-caseAU0452304
No validation step reported
Maternal
NAV3
engchuan_15_ASD_discovery_cases-case1763_311
Unknown
engchuan_15_ASD_discovery_cases-case3550_5
Unknown
PPP1R12A
engchuan_15_ASD_discovery_cases-case5227_4
Unknown
engchuan_15_ASD_discovery_cases-case5435_4
Unknown
LINC02424
engchuan_15_ASD_discovery_cases-case5523_3
Unknown
PPP1R12A
gai_11_ASD_discovery_cases-AU1245311
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1245312
Inherited
0 genes
gai_11_ASD_replication_cases-AU024003
Inherited
0 genes
gai_11_ASD_replication_cases-AU024004
Inherited
0 genes
krumm_15_ASD_discovery_cases-case13038.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
PPP1R12A
krumm_15_ASD_discovery_cases-case14151.p1
Omni2.5-4v1
De novo
Simplex
Not segregated (CNV in unaffected sibling)
GLIPR1,KRR1
krumm_15_ASD_discovery_cases-case14270.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
GLIPR1,KRR1
krumm_15_ASD_discovery_cases-case14424.p1
Omni2.5-4v1
De novo
Simplex
Segregated
GLIPR1,KRR1
maini_18_ASD/DD/ID_discovery_cases-case104
Maternal
Not simplex
Unknown
NAV3
maini_18_ASD/DD/ID_discovery_cases-case192
Maternal
Not simplex
Unknown
NAV3
maini_18_ASD/DD/ID_discovery_cases-case193
Maternal
Not simplex
Unknown
NAV3
marshall_08_ASD_discovery_cases-SK0305-003
qPCR, qmPCR
Unknown
NA
NA
LINC02424
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530954
Unknown
SYT1
pinto_10_ASD_discovery_cases-case1763_311
Illumina550
paternal
NA
NA
pinto_10_ASD_discovery_cases-case5227_4
Agilent1M
maternal
NA
NA
pinto_10_ASD_discovery_cases-case5435_4
Agilent1M
paternal
NA
NA
LINC02424
pinto_14_ASD_discovery_cases2-case18091_301
qPCR
Unknown (not maternal, father bad DNA)
Multiplex
Possibly segregated (CNV also present in affected sibling)
prasad_12_ASD_discovery_cases-case117395L
Unknown
Simplex
Unknown (unaffected sibling not tested)
0 genes
prasad_12_ASD_discovery_cases-case78621
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11012.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11047.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11079.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11159.p1
Both parents
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-11532.p1
Unknown
Simplex (quad-proband matched)
Segregated
NAV3
sanders_11_ASD_discovery_cases-11544.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NAV3
sanders_11_ASD_discovery_cases-11565.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11734.p1
Unknown
Simplex (trio)
NA
NAV3
sanders_11_ASD_discovery_cases-12235.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12320.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RPL7AP9,YWHAQP7
sanders_11_ASD_discovery_cases-12331.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAV3
sanders_11_ASD_discovery_cases-12392.p1
Unknown
Simplex (trio)
NA
NAV3
sanders_11_ASD_discovery_cases-12518.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13382.p1
Maternal
Simplex (trio)
NA
NAV3
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB885552_1007853677
Unknown
krumm_13_ASD_discovery_controls-control12716.s1
Maternal
Simplex
PPP1R12A
krumm_15_ASD_discovery_controls-control13981.s1
Omni2.5-4v1
Maternal
GLIPR1,KRR1
krumm_15_ASD_discovery_controls-control14151.s1
Omni2.5-4v1
Maternal
GLIPR1,KRR1
krumm_15_ASD_discovery_controls-control14424.s1
Omni2.5-4v1
Paternal
GLIPR1,KRR1
sanders_11_ASD_discovery_controls-11029.s1
Paternal
Simplex (quad)
NA
OSBPL8
sanders_11_ASD_discovery_controls-11304.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11511.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11544.s1
Maternal
Simplex (quad)
NA
NAV3
sanders_11_ASD_discovery_controls-12083.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12320.s1
Maternal
Simplex (quad)
NA
RPL7AP9,YWHAQP7
sanders_11_ASD_discovery_controls-12457.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12460.s1
Unknown
Simplex (quad)
NA
NAV3
sanders_11_ASD_discovery_controls-12518.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12735.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13187.s1
Maternal
Simplex (quad)
NA
NAV3
No Animal Model Data Available