HELP     Sign In

3q21.3CNV Type: Deletion-Duplication


Largest CNV size: 129081 bp

Statistics Box:
Number of Reports: 16



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of ...
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Excess of rare, inherited truncating mutations in autism.
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
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
Global increases in both common and rare copy number load associated with autism.
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
NA
Duplication
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 cusco_09_ASD_discovery_cases
 74 children followed in neurology clinic, 22 institutionalized mentally retarded adults with confirmed diagnosis of ASD
 96
 ASD
 
 87.5% Male
 129081
 0
 1
 1
 cusco_09_ASD_replication_cases
 Replication cohort of ASD patients
 215
 ASD
 
 
 129081
 0
 0
 0
 digregorio_17_DD/ID_discovery_cases
  NA NA
 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
 214000
 0
 1
 1
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 643366
 0
 1
 1
 gazzellone_14_ASD_discovery_cases
 ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
 104
 Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 Mean age at enrollment, 4.31 1.80 yrs.
 87.5% Male
 26983
 0
 1
 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.
 
 
 137984
 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
 636000
 0
 1
 1
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 100757
 1
 1
 2
 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
 581514
 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
 7266
 1
 0
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 7266
 2
 0
 2
 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
 52707
 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
 
 
 92463
 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
 7681
 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
 59774
 26
 66
 92
 wang_18_TS_discovery_cases
 Probands from 789 trio families (582 simplex trios, 103 multi-generational trios, and 104 trios with insufficient parental phenotypic data) from TIC Genetics, TAAICG, UTC, and TSGENESEE cohorts
 789
 Probands diagnosed with Tourette syndrome
 N/A
 80.57% Male
 659136
 0
 1
 1
 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
 182491
 0
 2
 2

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 cusco_09_ASD_discovery_controls
 Control individuals matched for population ancestry
 52
 Control
 
 51.9% Male
 129081
 0
 0
 0
 cusco_09_ASD_replication_controls
 Replication control cohort
 120
 Control
 
 
 129081
 0
 0
 0
 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.
 
 
 137984
 0
 0
 0
 girirajan_13b_ASD_discovery_controls
 Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
 223
 Control
 N/A
 N/A
 127616
 0
 6
 6
 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
 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
 0
 0
 0
 0
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 28479
 0
 1
 1
 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.
 
 11799
 1
 0
 1
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 7681
 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.
 
 47920
 17
 49
 66
 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
 182491
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 cusco_09_ASD_discovery_cases
  Spanish
 aCGH
  BAC array containing 5442 large insert DNA fragments
 PennCNV
 CNV partition
 MLPA, aCGH, array SNP
 cusco_09_ASD_replication_cases
 
 MLPA
  MLPA panel containing probes targeting CNVs identified in discovery
 
 
 
 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
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 None
 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
 girirajan_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
 aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
 DNA Copy Number v1.6
 
 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_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)
 mosca_16_DCD_discovery_cases
  Canada
 Solid phase hybridization
  Illumina HumanOmni2.5-Quad BeadChip
 iPattern, PennCNV, QuantiSNP, CNVPartition
 
 None
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 wang_18_TS_discovery_cases
  N/A
 WES
  Agilent SureSelect v1.1, Nimblegen EZ v2, Nimblegen EZ v3, IDT xGen
 
 CoNIFER
 None
 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
  cusco_09_ASD_discovery_controls
  Spanish
  aCGH
  BAC array containing 5442 large insert DNA fragments
 
 
 
  cusco_09_ASD_replication_controls
 
  MLPA
  MLPA panel containing probes targeting CNVs identified in discovery
 
 
 
  girirajan_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
 
  girirajan_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  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)
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  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
  cusco_09_ASD_discovery_cases-AUT96
 NA
 M
 Autism
 Aggression, occasional self-injurious behavior
 Severe MR
 131845264
 131974345
  129081
 Unknown
 Duplication
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300047
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 126583272
 126797479
  214208
 GRCh38
 Duplication
 No
  gai_11_ASD_replication_cases-AU083503
 
 
 Autism
 
 
 129021102
 129664467
  643366
 Unknown
 Duplication
 No
  gazzellone_14_ASD_discovery_cases-case562-3
 N/A
 F
 ASD
 ASD; no other clinical information provided
 N/A
 128621904
 128648887
  26984
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si323
 15
 M
 Autism
 ADOS score: 10. Vineland composite score: 56.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 48; Verbal IQ, 36; Non-verbal IQ, 61.
 126959839
 127097823
  137985
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-AU083503
 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
 127818467
 128458467
  640001
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-36907108784
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 126989206
 127042884
  53679
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-57105104492
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 126951835
 127052592
  100758
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000812
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 128601065
 129182579
  581515
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001982
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 128735053
 128967179
  232127
 GRCh38
 Duplication
 Yes
  krumm_13_ASD_discovery_cases-case13890.p1
 N/A
 F
 ASD
 ASD proband from SSC quad family 13890. SRS score of 82.
 Full-scale IQ (FSIQ) score of 37.
 129401592
 129408858
  7267
 GRCh38
 Deletion
 No (not tested)
  krumm_15_ASD_discovery_cases-case11689.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 129401592
 129408858
  7267
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14278.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 129401592
 129408858
  7267
 GRCh38
 Deletion
 Yes
  mosca_16_DCD_discovery_cases-case119303
 N/A
 M
 DCD (with or without ADHD and/or RD)
 Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
 
 126180095
 126232801
  52707
 GRCh38
 Deletion
 No
  pinto_10_ASD_discovery_cases-case5005_3
 NA
 M
 ASD
 NA
 NA
 129836640
 129929102
  92463
 Unknown
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case50280
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 130230617
 130236743
  6127
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case85276L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 129912914
 129920594
  7681
 Unknown
 Deletion
 No
  sanders_11_ASD_discovery_cases-11027.p1
 9.3
 M
 ASD
 NA
 Full-scale IQ, 83; non-verbal IQ, 84; verbal IQ, 86
 128661938
 128693874
  31937
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11031.p1
 13.8
 M
 Aspergers
 NA
 Full-scale IQ, 118; non-verbal IQ, 110; verbal IQ, 128
 128661938
 128690837
  28900
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11037.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 86; verbal IQ, 83
 128661938
 128672946
  11009
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11074.p1
 9.2
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 75; verbal IQ, 58
 128661938
 128693874
  31937
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11075.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 39; non-verbal IQ, 54; verbal IQ, 24
 128661938
 128693874
  31937
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11077.p1
 12.2
 M
 Autism
 NA
 Full-scale IQ, 33; non-verbal IQ, 36; verbal IQ, 26
 128661938
 128690837
  28900
 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
 128685426
 128693874
  8449
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11080.p1
 5.1
 F
 ASD
 NA
 Full-scale IQ, 51; non-verbal IQ, 50; verbal IQ 66
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11085.p1
 10.4
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 68; verbal IQ, 51
 128661938
 128693874
  31937
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11108.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 114; verbal IQ, 85
 128661938
 128693874
  31937
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11128.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 33; non-verbal IQ, 32; verbal IQ 35
 128661938
 128693874
  31937
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11134.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11188.p1
 15.5
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ 99
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11193.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 125; non-verbal IQ, 138; verbal IQ, 91
 128645954
 128672946
  26993
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11266.p1
 4.3
 F
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 78
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11283.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 132; verbal IQ 84
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11299.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 104; verbal IQ, 87
 128661938
 128672946
  11009
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11322.p1
 4.2
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
 128661938
 128693874
  31937
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11343.p1
 8.3
 M
 ASD
 NA
 Full-scale IQ, 87; non-verbal IQ, 90; verbal IQ 87
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11349.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 80; verbal IQ, 50
 128661938
 128672946
  11009
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11382.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 70; verbal IQ, 94
 128661938
 128693874
  31937
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11400.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 114; verbal IQ, 103
 128661938
 128679887
  17950
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11400.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 114; verbal IQ, 103
 128835934
 128856142
  20209
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11424.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 97; verbal IQ, 90
 128661938
 128693874
  31937
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11444.p1
 16.3
 F
 Aspergers
 NA
 Full-scale IQ, 120; non-verbal IQ, 125; verbal IQ, 121
 128661938
 128672946
  11009
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11445.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 90; verbal IQ, 67
 128661938
 128693874
  31937
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11452.p1
 8.5
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 80; verbal IQ, 85
 128645954
 128700211
  54258
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11499.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 133; non-verbal IQ, 139; verbal IQ, 108
 128685426
 128693874
  8449
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11510.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 81; verbal IQ, 103
 128661938
 128672946
  11009
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11537.p1
 14.3
 F
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 66; verbal IQ, 63
 128661938
 128693874
  31937
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11566.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 92; verbal IQ, 100
 128661938
 128693874
  31937
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11587.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 111; verbal IQ, 144
 128661938
 128693874
  31937
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11659.p1
 6.4
 F
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 89; verbal IQ, 94
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11681.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 84; verbal IQ, 85
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11689.p1
 13.8
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 87; verbal IQ, 107
 129401691
 129408132
  6442
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11720.p1
 8
 M
 ASD
 NA
 Full-scale IQ, 68; non-verbal IQ, 82; verbal IQ, 51
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11780.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 112; verbal IQ, 120
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11798.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 113
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11863.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 122; non-verbal IQ, 123; verbal IQ, 114
 128864877
 128879388
  14512
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11869.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 104; verbal IQ, 86
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11905.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 71; verbal IQ, 34
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11920.p1
 10.8
 M
 Aspergers
 NA
 Full-scale IQ, 96; non-verbal IQ, 91; verbal IQ, 106
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11931.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 69; verbal IQ, 51
 129408132
 129418292
  10161
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11946.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 52; non-verbal IQ, 59; verbal IQ, 37
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11989.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12009.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
 129408132
 129418292
  10161
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12046.p1
 12.6
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 88; verbal IQ, 87
 128661938
 128679887
  17950
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12070.p1
 14.4
 M
 ASD
 NA
 Full-scale IQ, 77; non-verbal IQ, 77; verbal IQ, 82
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12192.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 130; verbal IQ, 115
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12197.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 103
 128661938
 128690837
  28900
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12219.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 110; verbal IQ, 136
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12227.p1
 12.4
 M
 Autism
 NA
 Full-scale IQ, 137; non-verbal IQ, 146; verbal IQ, 106
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12255.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 98; verbal IQ, 87
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12272.p1
 5.4
 M
 Autism
 NA
 Full-scale IQ, 70; non-verbal IQ, 79; verbal IQ, 62
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12279.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 64; verbal IQ, 58
 129408132
 129418292
  10161
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12320.p1
 8.5
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 100
 128645954
 128693181
  47228
 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
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12337.p1
 11.6
 M
 ASD
 NA
 Full-scale IQ, 121; non-verbal IQ, 112; verbal IQ, 131
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12376.p1
 12.2
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 104
 126609258
 126669032
  59775
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12381.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 64; verbal IQ, 79
 128661938
 128700211
  38274
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12382.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 94; verbal IQ, 88
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12395.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 81
 129851358
 129863247
  11890
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12423.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 115; verbal IQ, 82
 129408132
 129421656
  13525
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12437.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 78; verbal IQ, 72
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12444.p1
 9.5
 F
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 59; verbal IQ, 79
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12457.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 97; verbal IQ, 103
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12476.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 100; verbal IQ, 79
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12477.p1
 14.1
 M
 Autism
 NA
 Full-scale IQ, 28; non-verbal IQ, 28; verbal IQ, 27
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12548.p1
 11.9
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 113; verbal IQ, 76
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12561.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 101; verbal IQ, 103
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12568.p1
 14.6
 M
 Autism
 NA
 Full-scale IQ, 51; non-verbal IQ, 75; verbal IQ, 26
 128661938
 128679887
  17950
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12572.p1
 14.9
 M
 Autism
 NA
 Full-scale IQ, 38; non-verbal IQ, 49; verbal IQ, 31
 129408132
 129421656
  13525
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12592.p1
 8.2
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 119; verbal IQ, 106
 128661938
 128679887
  17950
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12595.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 122; verbal IQ, 108
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12600.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 69
 129408132
 129418292
  10161
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12610.p1
 5.4
 M
 ASD
 NA
 Full-scale IQ, 86; non-verbal IQ, 99; verbal IQ, 71
 129408132
 129418292
  10161
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12628.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 102; verbal IQ, 120
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12634.p1
 4.2
 F
 Autism
 NA
 Full-scale IQ, 69; non-verbal IQ, 75; verbal IQ, 63
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12650.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 100; verbal IQ, 109
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12653.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 69; verbal IQ, 97
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12723.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 38
 129408132
 129418292
  10161
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12739.p1
 6.8
 M
 ASD
 NA
 Full-scale IQ, 98; non-verbal IQ, 112; verbal IQ, 77
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12759.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 114; verbal IQ, 89
 128661938
 128679887
  17950
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12817.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 34; verbal IQ, 37
 128661938
 128679887
  17950
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12858.p1
 4.2
 F
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 99; verbal IQ, 83
 129408132
 129421656
  13525
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12951.p1
 15.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 64; verbal IQ, 44
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12960.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 52; verbal IQ, 42
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13070.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ, 85
 128661938
 128679887
  17950
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13077.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 105
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13152.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 79; verbal IQ, 78
 128645954
 128693181
  47228
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13171.p1
 7.9
 F
 Autism
 NA
 Full-scale IQ, 51; non-verbal IQ, 59; verbal IQ, 45
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13251.p1
 7.7
 F
 Autism
 NA
 Full-scale IQ, 95; non-verbal IQ, 93; verbal IQ, 102
 128661938
 128693181
  31244
 GRCh38
 Duplication
 No
  wang_18_TS_discovery_cases-case1061707585
 N/A
 N/A
 Tourette syndrome
 Tourette syndrome proband from phase 1 cohort; no additional clinical information available
 
 126914629
 127573764
  659136
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case122
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 128502032
 128648721
  146690
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case123
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 128764457
 128946947
  182491
 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
  girirajan_13b_ASD_discovery_controls-34108110389
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  126946575
  127036472
  89898
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-40804101794
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  129495556
  129623172
  127617
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-56305104466
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  126989206
  127042446
  53241
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-66705104892
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  126989206
  127042884
  53679
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-70005105416
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  127418955
  127534081
  115127
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-70005105416
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  126994559
  127062892
  68334
  GRCh38
  Duplication
  No
  krumm_15_ASD_discovery_controls-control13611.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  129130080
  129158559
  28480
  GRCh38
  Duplication
  Yes
  nord_11_ASD_discovery_controls-04C27213
 
 
  Control
 
 
  131442285
  131454083
  11799
  Unknown
  Deletion
 
  sanders_11_ASD_discovery_controls-11027.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  128661938
  128690837
  28900
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11031.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  128661938
  128693874
  31937
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11057.s1
  5.9
  M
  Control (matched sibling)
  NA
  NA
  128661938
  128693874
  31937
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11074.s1
  7.3
  M
  Control (matched sibling)
  NA
  NA
  128661938
  128690837
  28900
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11077.s1
  14.8
  M
  Control (matched sibling)
  NA
  NA
  128654713
  128690837
  36125
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11234.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  128661938
  128693874
  31937
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11266.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  128661938
  128693181
  31244
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11296.s1
  14
  M
  Control (matched sibling)
  NA
  NA
  128661938
  128672946
  11009
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11299.s1
  4.3
  M
  Control (matched sibling)
  NA
  NA
  128661938
  128685426
  23489
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11327.s1
  9.5
  F
  Control (matched sibling)
  NA
  NA
  128685426
  128693874
  8449
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11345.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  128661938
  128690837
  28900
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11349.s1
  8.6
  M
  Control (matched sibling)
  NA
  NA
  128661938
  128672946
  11009
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11365.s1
  13.1
  F
  Control (matched sibling)
  NA
  NA
  128661938
  128693874
  31937
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11424.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  128645954
  128693874
  47921
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11435.s1
  23.3
  M
  Control (matched sibling)
  NA
  NA
  128661938
  128693874
  31937
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11444.s1
  19.5
  F
  Control (matched sibling)
  NA
  NA
  128661938
  128672946
  11009
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11445.s1
  9.5
  F
  Control (matched sibling)
  NA
  NA
  128661938
  128700211
  38274
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11473.s1
  9.3
  F
  Control (matched sibling)
  NA
  NA
  128661938
  128693874
  31937
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11480.s1
  13.8
  F
  Control (matched sibling)
  NA
  NA
  128661938
  128693181
  31244
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11510.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  128661938
  128672946
  11009
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11523.s1
  4.9
  F
  Control (matched sibling)
  NA
  NA
  128661938
  128693874
  31937
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11587.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  128661938
  128693874
  31937
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11659.s1
  4.8
  F
  Control (matched sibling)
  NA
  NA
  128661938
  128690837
  28900
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11715.s1
  6.6
  F
  Control (matched sibling)
  NA
  NA
  128661938
  128693181
  31244
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11720.s1
  11.6
  F
  Control (matched sibling)
  NA
  NA
  128661938
  128693181
  31244
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11721.s1
  6.9
  M
  Control (matched sibling)
  NA
  NA
  129408132
  129418292
  10161
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11798.s1
  7.2
  F
  Control (matched sibling)
  NA
  NA
  128661938
  128693181
  31244
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11863.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  128864877
  128879388
  14512
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11909.s1
  5.7
  M
  Control (matched sibling)
  NA
  NA
  128661938
  128693181
  31244
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11911.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  128661938
  128679887
  17950
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11920.s1
  18.3
  M
  Control (matched sibling)
  NA
  NA
  128661938
  128693181
  31244
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11935.s1
  6.2
  M
  Control (matched sibling)
  NA
  NA
  128661938
  128693181
  31244
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11946.s1
  12.9
  M
  Control (matched sibling)
  NA
  NA
  128661938
  128693181
  31244
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11948.s1
  11.8
  M
  Control (matched sibling)
  NA
  NA
  127406746
  127419434
  12689
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11979.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  128661938
  128690837
  28900
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11981.s1
  8.6
  F
  Control (matched sibling)
  NA
  NA
  128661938
  128693181
  31244
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11989.s1
  8.1
  F
  Control (matched sibling)
  NA
  NA
  128661938
  128693181
  31244
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12007.s1
  10.9
  M
  Control (matched sibling)
  NA
  NA
  128661938
  128693181
  31244
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12227.s1
  10.3
  M
  Control (matched sibling)
  NA
  NA
  128661938
  128693181
  31244
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12320.s1
  23.3
  F
  Control (matched sibling)
  NA
  NA
  128654713
  128693181
  38469
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12329.s1
  6.3
  M
  Control (matched sibling)
  NA
  NA
  128661938
  128693181
  31244
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12335.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  128661938
  128693181
  31244
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12337.s1
  13.3
  M
  Control (matched sibling)
  NA
  NA
  128661938
  128693181
  31244
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12381.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  128661938
  128693181
  31244
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12396.s1
  11.2
  F
  Control (matched sibling)
  NA
  NA
  128662243
  128693181
  30939
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12437.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  128661938
  128693181
  31244
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12449.s1
  5.3
  M
  Control (matched sibling)
  NA
  NA
  128661938
  128702323
  40386
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12457.s1
  5.6
  M
  Control (matched sibling)
  NA
  NA
  128661938
  128693181
  31244
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12510.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  128661938
  128679887
  17950
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12561.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  128661938
  128693181
  31244
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12572.s1
  6.6
  F
  Control (matched sibling)
  NA
  NA
  129406388
  129418292
  11905
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12592.s1
  10.1
  F
  Control (matched sibling)
  NA
  NA
  128661938
  128679887
  17950
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12595.s1
  10.4
  M
  Control (matched sibling)
  NA
  NA
  128654713
  128693181
  38469
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12596.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  129408132
  129418292
  10161
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12628.s1
  13.6
  F
  Control (matched sibling)
  NA
  NA
  128661938
  128693181
  31244
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12650.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  128661938
  128693181
  31244
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12723.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  129406388
  129418292
  11905
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12735.s1
  9.1
  M
  Control (matched sibling)
  NA
  NA
  128661938
  128693181
  31244
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12759.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  128661938
  128679887
  17950
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12817.s1
  15.7
  F
  Control (matched sibling)
  NA
  NA
  128661938
  128679887
  17950
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12867.s1
  18.8
  M
  Control (matched sibling)
  NA
  NA
  128661938
  128690837
  28900
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12956.s1
  7.4
  F
  Control (matched sibling)
  NA
  NA
  128661938
  128693181
  31244
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13023.s1
  8.8
  M
  Control (matched sibling)
  NA
  NA
  128654713
  128693181
  38469
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13070.s1
  11.6
  M
  Control (matched sibling)
  NA
  NA
  128661938
  128679887
  17950
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13077.s1
  13.9
  M
  Control (matched sibling)
  NA
  NA
  128661938
  128693181
  31244
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13171.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  128661938
  128693181
  31244
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 cusco_09_ASD_discovery_cases-AUT96
 MLPA & aCGH (Agilent 44k or 244K)
 
 Unknown
 NA
 NA
 COL6A6, PIK3R4
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300047
 
 
 Maternal
 
 
 RCC2P4,NUP210P1,TXNRD3,CHCHD6
 
 gai_11_ASD_replication_cases-AU083503
 
 
 Inherited
 
 
 MGLL, KLHDC6, SEC61A1, RUVBL1, EEFSEC, DNAJB8
 
 gazzellone_14_ASD_discovery_cases-case562-3
 
 
 Unknown
 Unknown
 Unknown
 RPN1
 
 girirajan_11_ASD_discovery_cases-Si323
 
 
 Unknown
 Simplex
 
 PLXNA1,CHCHD6
 
 girirajan_13a_ASD_discovery_cases-AU083503
 
 
 Unknown
 Multiplex
 Unknown
 RNA5SP139,RNU2-37P,RUVBL1-AS1,RNU6-823P,RUVBL1,SEC61A1,EEFSEC,MGLL,KBTBD12
 
 girirajan_13b_ASD_discovery_cases-36907108784
 
 
 Unknown
 Unknown
 Unknown
 PLXNA1
 
 girirajan_13b_ASD_discovery_cases-57105104492
 
 
 Unknown
 Unknown
 Unknown
 PLXNA1,CHCHD6
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000812
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 POU5F1P6,MARK2P8,FTH1P4,RN7SL698P,RPS15AP16,MARK3P3,MARK2P6,GP9,RPN1,RAB7A,ACAD9,EFCC1,ISY1,CNBP,MARK2P17,RAB43,ISY1-RAB43,KIAA1257
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001982
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 MARK2P8,FTH1P4,RN7SL698P,RPS15AP16,MARK3P3,MARK2P6,RAB7A,ACAD9,MARK2P17,KIAA1257
 
 krumm_13_ASD_discovery_cases-case13890.p1
 
 
 Maternal
 Simplex
 Segregated
 EFCAB12
 
 krumm_15_ASD_discovery_cases-case11689.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 EFCAB12
 
 krumm_15_ASD_discovery_cases-case14278.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 EFCAB12
 
 mosca_16_DCD_discovery_cases-case119303
 
 
 Unknown
 Unknown
 Unknown
 ALDH1L1,ALDH1L1-AS2
 
 pinto_10_ASD_discovery_cases-case5005_3
 Agilent1M
 
 maternal
 NA
 NA
 RPN1,RAB7A
 
 prasad_12_ASD_discovery_cases-case50280
 
 
 Unknown
 Unknown
 Unknown
 CCDC48
 
 prasad_12_ASD_discovery_cases-case85276L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11027.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11031.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11037.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 RPN1
 
 sanders_11_ASD_discovery_cases-11074.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11075.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11077.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11079.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11080.p1
 
 
 Paternal
 Simplex (trio)
 NA
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11085.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11108.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11128.p1
 
 
 Maternal
 Simplex (trio)
 NA
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11134.p1
 
 
 Paternal
 Simplex (trio)
 NA
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11188.p1
 
 
 Maternal
 Simplex (trio)
 NA
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11193.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 RPN1
 
 sanders_11_ASD_discovery_cases-11266.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11283.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11299.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RPN1
 
 sanders_11_ASD_discovery_cases-11322.p1
 
 
 Both parents
 Simplex (trio)
 NA
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11343.p1
 
 
 Maternal
 Simplex (trio)
 NA
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11349.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RPN1
 
 sanders_11_ASD_discovery_cases-11382.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11400.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11400.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MARK3P3,MARK2P6,MARK2P17
 
 sanders_11_ASD_discovery_cases-11424.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11444.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RPN1
 
 sanders_11_ASD_discovery_cases-11445.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11452.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11499.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11510.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RPN1
 
 sanders_11_ASD_discovery_cases-11537.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11566.p1
 
 
 Maternal
 Simplex (trio)
 NA
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11587.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11659.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11681.p1
 
 
 Maternal
 Simplex (trio)
 NA
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11689.p1
 
 
 Paternal
 Simplex (trio)
 NA
 EFCAB12
 
 sanders_11_ASD_discovery_cases-11720.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11780.p1
 
 
 Paternal
 Simplex (trio)
 NA
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11798.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11863.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11869.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11905.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11920.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11931.p1
 
 
 Unknown
 Simplex (trio)
 NA
 EFCAB12
 
 sanders_11_ASD_discovery_cases-11946.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-11989.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12009.p1
 
 
 Unknown
 Simplex (trio)
 NA
 EFCAB12
 
 sanders_11_ASD_discovery_cases-12046.p1
 
 
 Paternal
 Simplex (trio)
 NA
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12070.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12192.p1
 
 
 Maternal
 Simplex (trio)
 NA
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12197.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12219.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12227.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12255.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12272.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12279.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 EFCAB12
 
 sanders_11_ASD_discovery_cases-12320.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12331.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12337.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12376.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 NUP210P1,TXNRD3
 
 sanders_11_ASD_discovery_cases-12381.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12382.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12395.p1
 
 
 Maternal
 Simplex (trio)
 NA
 TMCC1
 
 sanders_11_ASD_discovery_cases-12423.p1
 
 
 Both parents
 Simplex (quad-proband unmatched)
 Unknown
 EFCAB12
 
 sanders_11_ASD_discovery_cases-12437.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12444.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12457.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12476.p1
 
 
 Paternal
 Simplex (trio)
 NA
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12477.p1
 
 
 Paternal
 Simplex (trio)
 NA
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12548.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12561.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12568.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12572.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 EFCAB12
 
 sanders_11_ASD_discovery_cases-12592.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12595.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12600.p1
 
 
 Unknown
 Simplex (trio)
 NA
 EFCAB12
 
 sanders_11_ASD_discovery_cases-12610.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 EFCAB12
 
 sanders_11_ASD_discovery_cases-12628.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12634.p1
 
 
 Maternal
 Simplex (trio)
 NA
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12650.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12653.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12723.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 EFCAB12
 
 sanders_11_ASD_discovery_cases-12739.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12759.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12817.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12858.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 EFCAB12
 
 sanders_11_ASD_discovery_cases-12951.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-12960.p1
 
 
 Maternal
 Simplex (trio)
 NA
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-13070.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-13077.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-13152.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-13171.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 sanders_11_ASD_discovery_cases-13251.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 POU5F1P6,RPN1
 
 wang_18_TS_discovery_cases-case1061707585
 CNV validation not attempted
 
 De novo
 
 
 C3orf56,RNU6-1047P,LINC02034,PRR20G,LINC02016,TPRA1,PLXNA1,LINC01471,CHCHD6
 
 yin_16_ASD_discovery_cases-case122
 
 
 Unknown
 Unknown
 Unknown
 TMED10P2,LINC01565,GATA2-AS1,RPN1
 
 yin_16_ASD_discovery_cases-case123
 
 
 Unknown
 Unknown
 Unknown
 FTH1P4,RN7SL698P,RPS15AP16,MARK3P3,MARK2P6,RAB7A,ACAD9,MARK2P17,KIAA1257
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_13b_ASD_discovery_controls-34108110389
 
 
  Unknown
 
 
  PLXNA1,CHCHD6
 
girirajan_13b_ASD_discovery_controls-40804101794
 
 
  Unknown
 
 
  RN7SL752P,RHO,H1FOO,PLXND1,IFT122
 
girirajan_13b_ASD_discovery_controls-56305104466
 
 
  Unknown
 
 
  PLXNA1
 
girirajan_13b_ASD_discovery_controls-66705104892
 
 
  Unknown
 
 
  PLXNA1
 
girirajan_13b_ASD_discovery_controls-70005105416
 
 
  Unknown
 
 
  LINC01471
 
girirajan_13b_ASD_discovery_controls-70005105416
 
 
  Unknown
 
 
  PLXNA1
 
krumm_15_ASD_discovery_controls-control13611.s1
  Omni2.5-4v1
 
  Paternal
 
 
  ISY1,ISY1-RAB43
 
nord_11_ASD_discovery_controls-04C27213
 
 
 
 
 
  COL6A4P2
 
sanders_11_ASD_discovery_controls-11027.s1
 
 
  Maternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-11031.s1
 
 
  Paternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-11057.s1
 
 
  Both parents
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-11074.s1
 
 
  Maternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-11077.s1
 
 
  Both parents
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-11234.s1
 
 
  Maternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-11266.s1
 
 
  Both parents
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-11296.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RPN1
 
sanders_11_ASD_discovery_controls-11299.s1
 
 
  Paternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-11327.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11345.s1
 
 
  Paternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-11349.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RPN1
 
sanders_11_ASD_discovery_controls-11365.s1
 
 
  Maternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-11424.s1
 
 
  Maternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-11435.s1
 
 
  Paternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-11444.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RPN1
 
sanders_11_ASD_discovery_controls-11445.s1
 
 
  Both parents
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-11473.s1
 
 
  Both parents
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-11480.s1
 
 
  Maternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-11510.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RPN1
 
sanders_11_ASD_discovery_controls-11523.s1
 
 
  Maternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-11587.s1
 
 
  Paternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-11659.s1
 
 
  Paternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-11715.s1
 
 
  Paternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-11720.s1
 
 
  Paternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-11721.s1
 
 
  Unknown
  Simplex (quad)
  NA
  EFCAB12
 
sanders_11_ASD_discovery_controls-11798.s1
 
 
  Paternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-11863.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11909.s1
 
 
  Maternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-11911.s1
 
 
  Maternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-11920.s1
 
 
  Both parents
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-11935.s1
 
 
  Maternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-11946.s1
 
 
  Maternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-11948.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11979.s1
 
 
  Maternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-11981.s1
 
 
  Maternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-11989.s1
 
 
  Maternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-12007.s1
 
 
  Paternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-12227.s1
 
 
  Paternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-12320.s1
 
 
  Paternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-12329.s1
 
 
  Paternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-12335.s1
 
 
  Maternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-12337.s1
 
 
  Paternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-12381.s1
 
 
  Paternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-12396.s1
 
 
  Both parents
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-12437.s1
 
 
  Paternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-12449.s1
 
 
  Paternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-12457.s1
 
 
  Maternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-12510.s1
 
 
  Maternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-12561.s1
 
 
  Paternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-12572.s1
 
 
  Unknown
  Simplex (quad)
  NA
  EFCAB12
 
sanders_11_ASD_discovery_controls-12592.s1
 
 
  Paternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-12595.s1
 
 
  Paternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-12596.s1
 
 
  Unknown
  Simplex (quad)
  NA
  EFCAB12
 
sanders_11_ASD_discovery_controls-12628.s1
 
 
  Both parents
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-12650.s1
 
 
  Maternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-12723.s1
 
 
  Both parents
  Simplex (quad)
  NA
  EFCAB12
 
sanders_11_ASD_discovery_controls-12735.s1
 
 
  Maternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-12759.s1
 
 
  Maternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-12817.s1
 
 
  Maternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-12867.s1
 
 
  Maternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-12956.s1
 
 
  Maternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-13023.s1
 
 
  Maternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-13070.s1
 
 
  Both parents
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-13077.s1
 
 
  Paternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 
sanders_11_ASD_discovery_controls-13171.s1
 
 
  Maternal
  Simplex (quad)
  NA
  POU5F1P6,RPN1
 

No Animal Model Data Available
HELP
Copyright © 2017 MindSpec, Inc.