7q21.3CNV Type: Deletion-Duplication
Largest CNV size: 74012 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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
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
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion-Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bitar_19_ASD_discovery_cases
ASD cases selected through specialized institutions and NGOs specializing in mental disorders throughout Lebanon
19
Cases diagnosed with ASD using DSM-IV criteria and CARS
N/A
84.21% Male
65000
0
1
1
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
5567
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
653
1
1
2
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
12000
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
447007
0
1
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
220696
1
0
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
96079
1
0
1
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
436336
1
0
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
278000
0
1
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
194521
1
2
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
50933
0
3
3
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
241181
0
1
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
58241
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
7553
1
0
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
215948
1
0
1
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
74012
5
3
8
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
34095
0
2
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
3206209
0
1
1
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
436336
0
0
0
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
42597
0
3
3
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
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)
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)
7553
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.
95999
6
3
9
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
34095
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bitar_19_ASD_discovery_cases
Lebanon
aCGH
Agilent SurePrint G3 2x400K
ADM-2
Agilent Cytogenomics v.3.0.6.6, Agilent Feature Extraction
qPCR
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
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
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
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
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
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
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
qPCR
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
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
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
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_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
bitar_19_ASD_discovery_cases-case91
N/A
M
ASD and epilepsy
Case diagnosed with ASD using DSM-IV criteria and CARS. Behavioral/psychiatric evaluation: fear, anxiety, self-injurious behavior. Epilepsy/seizures: epilepsy. Additional medical history: deafness. Family history: born to consanguineous parents (first degree cousins); history of diabetes on both sides of the family, as well as hypertension, high cholesterol, and cardiac disease on the paternal side of the family.
97691997
97757766
65770
GRCh38
Duplication
Yes
brandler_18_ASD_discovery_cases-caseSSC06324
N/A
M
ASD
Case from SSC cohort
95155486
95161053
5568
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11076
NA
M
ASD
NA
NA
95591936
95592589
654
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11303
NA
M
ASD
NA
NA
93197463
93197664
202
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300080
N/A
M
Developmental delay/intellectual disability
97854557
97866545
11989
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8685_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
98040842
98487849
447008
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1212301
Autism
92869641
93090336
220696
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU004903
Autism
92910257
93006335
96079
Unknown
Deletion
No
girirajan_11_ASD_discovery_cases-Si158
11
M
Autism
ADOS score: 10. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 83; Non-verbal IQ, 94.
94997334
95433670
436337
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-13616.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
98242752
98522752
280001
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001798
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
94373041
94510143
137103
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004314
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
96591925
96746514
154590
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004657
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
93410151
93604672
194522
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11547.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
98203573
98212879
9307
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12087.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
98203573
98205492
1920
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13616.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
98304195
98355128
50934
GRCh38
Duplication
Yes
mosca_16_DCD_discovery_cases-case117303
N/A
M
DCD/ADHD
Ancestry: European. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
97303594
97544774
241181
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case98HI0546A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU014805; NDAR ID NDAR_INVBK018BCG)
98304194
98362434
58241
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case46486
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
94551133
94558685
7553
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1674-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: unknown.
95480475
95696422
215948
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11080.p1
5.1
F
ASD
NA
Full-scale IQ, 51; non-verbal IQ, 50; verbal IQ 66
94720396
94794408
74013
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11270.p1
6
M
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 49; verbal IQ, 47
98396841
98398848
2008
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11329.p1
8.7
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
97756032
97784798
28767
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11387.p1
8.4
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 128; verbal IQ 89
94250830
94265815
14986
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11825.p1
6.6
M
Autism
NA
Full-scale IQ, 131; non-verbal IQ, 135; verbal IQ, 115
97551305
97568824
17520
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11911.p1
9.9
F
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 86; verbal IQ, 79
96768437
96773113
4677
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12372.p1
15.7
F
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 74; verbal IQ, 80
97080718
97087552
6835
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12948.p1
17.9
F
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 57; verbal IQ, 81
98387218
98398848
11631
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case274
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
93749405
93775501
26097
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case275
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
98226266
98260360
34095
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB701059_1007854369
N/A
N/A
Control
No previous psychiatric history
93705134
96911343
3206210
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1183
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
97361784
97404380
42597
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1243
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
97196411
97198136
1726
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1761
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
97196411
97198136
1726
Unknown
Duplication
No
sanders_11_ASD_discovery_controls-11329.s1
6.9
M
Control (matched sibling)
NA
NA
97756032
97776222
20191
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11977.s1
13.3
F
Control (matched sibling)
NA
NA
98387218
98398848
11631
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12372.s1
13.5
F
Control (matched sibling)
NA
NA
97080718
97087552
6835
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12430.s1
8.3
M
Control (matched sibling)
NA
NA
93623088
93637914
14827
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12555.s1
18.9
F
Control (matched sibling)
NA
NA
93623088
93637234
14147
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12715.s1
4.2
F
Control (matched sibling)
NA
NA
98387218
98398848
11631
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12939.s1
5.7
M
Control (matched sibling)
NA
NA
98387218
98398848
11631
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13168.s1
4.7
F
Control (matched sibling)
NA
NA
95589126
95619390
30265
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13168.s1
4.7
F
Control (matched sibling)
NA
NA
95488391
95584390
96000
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bitar_19_ASD_discovery_cases-case91
qPCR
Paternal
TAC1
brandler_18_ASD_discovery_cases-caseSSC06324
SNP VCF
De novo
PPP1R9A
celestino-soper_11_ASD_discovery_cases-11076
Unknown
Simplex
NA
PDK4
celestino-soper_11_ASD_discovery_cases-11303
Unknown
Simplex
NA
HEPACAM2
digregorio_17_DD/ID_discovery_cases-DECIPHER_300080
Paternal
ASNS
engchuan_15_ASD_discovery_cases-case8685_201
Unknown
BHLHA15,PPIAP82,TECPR1,RPS3AP26,LMTK2,BRI3,BAIAP2L1
gai_11_ASD_discovery_cases-AU1212301
Inherited
CALCR
gai_11_ASD_replication_cases-AU004903
Inherited
CALCR
girirajan_11_ASD_discovery_cases-Si158
Unknown
Simplex
HINT1P2,RNU4-16P,PON1,PON3,PPP1R9A,PON2
girirajan_13a_ASD_discovery_cases-13616.p1
Unknown
Simplex
Unknown
PPIAP82,TECPR1,RPS3AP26,BRI3,BAIAP2L1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001798
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RNU6-1328P,COL1A2,CASD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004314
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SEM1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004657
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR653,MIR489,CALCR,GNGT1
krumm_15_ASD_discovery_cases-case11547.p1
Illumina 1M
Paternal
Simplex
Segregated
BHLHA15,LMTK2
krumm_15_ASD_discovery_cases-case12087.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
LMTK2
krumm_15_ASD_discovery_cases-case13616.p1
1M-Duov3
Maternal
Simplex
Segregated
BRI3,BAIAP2L1
mosca_16_DCD_discovery_cases-case117303
qPCR
Unknown
Unknown
Unknown
AP1S2P1
poultney_13_ASD_discovery_cases-case98HI0546A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
BRI3,BAIAP2L1
prasad_12_ASD_discovery_cases-case46486
Unknown
Unknown
Unknown
PPP1R9A
sajan_13_ACC/CBLH/PMG_discovery_cases-case1674-0
qPCR
Paternal
Unknown
Unknown
ASB4,PDK4
sanders_11_ASD_discovery_cases-11080.p1
Maternal
Simplex (trio)
NA
ATP5PBP2,GRPEL2P3
sanders_11_ASD_discovery_cases-11270.p1
Unknown
Simplex (quad-proband matched)
Segregated
BAIAP2L1
sanders_11_ASD_discovery_cases-11329.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11387.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11825.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11911.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12372.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12948.p1
Unknown
Simplex (trio)
NA
BAIAP2L1
yin_16_ASD_discovery_cases-case274
Unknown
Unknown
Unknown
GNGT1
yin_16_ASD_discovery_cases-case275
Unknown
Unknown
Unknown
TECPR1,BRI3
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB701059_1007854369
Unknown
MIR4652,NDUFAF4P2,TFPI2,GNG11,RNU6-1328P,RPS3AP25,RNU6-956P,ATP5PBP2,GRPEL2P3,RN7SKP129,ARF1P1,HINT1P2,RNU4-16P,MIR591,RNU6-532P,RNU6-364P,RNU7-188P,MARK2P10,COL1A2,CASD1,PEG10,PON1,PON3,ASB4,PDK4,GNGT1,BET1,SGCE,PPP1R9A,DYNC1I1,SLC25A13,SEM1,PON2
kanduri_15_ASD_discovery_controls-control_split1183
Unknown
TAC1
kanduri_15_ASD_discovery_controls-control_split1243
Unknown
Intergenic CNV: nearest genes, ACN9(dist=385336),TAC1(dist=163135)
kanduri_15_ASD_discovery_controls-control_split1761
Unknown
Intergenic CNV: nearest genes, ACN9(dist=385336),TAC1(dist=163135)
sanders_11_ASD_discovery_controls-11329.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11977.s1
Unknown
Simplex (quad)
NA
BAIAP2L1
sanders_11_ASD_discovery_controls-12372.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12430.s1
Unknown
Simplex (quad)
NA
GNGT1
sanders_11_ASD_discovery_controls-12555.s1
Unknown
Simplex (quad)
NA
GNGT1
sanders_11_ASD_discovery_controls-12715.s1
Unknown
Simplex (quad)
NA
BAIAP2L1
sanders_11_ASD_discovery_controls-12939.s1
Unknown
Simplex (quad)
NA
BAIAP2L1
sanders_11_ASD_discovery_controls-13168.s1
Paternal
Simplex (quad)
NA
PDK4
sanders_11_ASD_discovery_controls-13168.s1
Paternal
Simplex (quad)
NA
ASB4,PDK4
No Animal Model Data Available