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8p21.2CNV Type: Deletion-Duplication


Largest CNV size: 82180 bp

Statistics Box:
Number of Reports: 9


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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
NA
Duplication
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 66279
 2
 0
 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
 1474275
 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
 1626
 1
 0
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 1671
 1
 0
 1
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 250000
 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
 28281
 0
 1
 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
 54326
 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
 82180
 85
 28
 113
 stamouli_18_ASD/NDD_discovery_cases
  NA NA
 Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
 100 twin pairs
 Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
 N/A
 N/A
 41348
 0
 1
 1

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
 75185
 4
 1
 5
 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
 1626
 1
 0
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 1671
 1
 0
 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.
 
 42605
 1
 0
 1
 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)
 12627
 0
 1
 1
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 28281
 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.
 
 13073
 71
 14
 85

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 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)
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 qPCR
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 None (not tested or failure to confirm by 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
 
 
 stamouli_18_ASD/NDD_discovery_cases
  Swedish
 Solid phase hybridization
  Illumina Infinium PsychArray-24 v1.1
 PennCNV, QuantiSNP, iPattern, iPsychCNV
 
 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
  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
  Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_cases-case3273_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 25661696
 25727975
  66280
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4377_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 25661696
 25727975
  66280
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002104
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23961808
 25436108
  1474301
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004726
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 24463803
 25049184
  585382
 GRCh38
 Duplication
 Yes
  krumm_13_ASD_discovery_cases-case12631.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12631. SRS score of 78.
 Full-scale IQ (FSIQ) score of 80.
 27520882
 27522508
  1627
 GRCh38
 Deletion
 No (not tested)
  krumm_15_ASD_discovery_cases-case12631.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 27520846
 27522517
  1672
 GRCh38
 Deletion
 Yes
  maini_18_ASD/DD/ID_discovery_cases-case_unknown204
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
 
 24277247
 24490863
  213617
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case88810
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 24361792
 24390072
  28281
 Unknown
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-342
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 25167662
 25221986
  54325
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11001.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11002.p1
 7.7
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 111; verbal IQ, 80
 25216199
 25216845
  647
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11010.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 68; verbal IQ, 60
 25216199
 25216845
  647
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11027.p1
 9.3
 M
 ASD
 NA
 Full-scale IQ, 83; non-verbal IQ, 84; verbal IQ, 86
 25216199
 25216845
  647
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11040.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 67; verbal IQ, 64
 25216199
 25216845
  647
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11049.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11064.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 129; verbal IQ, 86
 25204291
 25216845
  12555
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11067.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 128; verbal IQ, 121
 25216199
 25216845
  647
 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
 26150378
 26196046
  45669
 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
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11087.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 86; verbal IQ 99
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11088.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 102; verbal IQ, 80
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11090.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 56; non-verbal IQ, 67; verbal IQ, 53
 25216199
 25216845
  647
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11099.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 89; verbal IQ, 77
 25216199
 25216845
  647
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11106.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 65; verbal IQ, 51
 25216199
 25216845
  647
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11124.p1
 11.1
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 72; verbal IQ, 44
 25549776
 25556869
  7094
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11132.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 49; verbal IQ, 32
 25216199
 25216845
  647
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11161.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 74; verbal IQ, 59
 25216199
 25216845
  647
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11179.p1
 13.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 65; verbal IQ, 41
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11205.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 61
 25216199
 25216845
  647
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11214.p1
 15.5
 M
 ASD
 NA
 Full-scale IQ, 93; non-verbal IQ, 100; verbal IQ, 83
 25216199
 25216845
  647
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11225.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 98; verbal IQ 120
 25216199
 25216845
  647
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11229.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 68; verbal IQ, 56
 25216199
 25216845
  647
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11246.p1
 8.2
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 96
 25555222
 25556869
  1648
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11251.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 84; verbal IQ, 88
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11301.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 104; verbal IQ, 96
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11336.p1
 10.4
 M
 Autism
 NA
 Full-scale IQ, 123; non-verbal IQ, 124; verbal IQ, 114
 25216199
 25216845
  647
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11368.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
 25216199
 25216845
  647
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11376.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 89; verbal IQ, 97
 25549776
 25556869
  7094
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11387.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 128; verbal IQ 89
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11432.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 117; verbal IQ, 111
 25555222
 25556869
  1648
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11439.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11441.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 125; non-verbal IQ, 119; verbal IQ, 126
 25216199
 25216845
  647
 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
 25555222
 25556869
  1648
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11489.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 108; verbal IQ, 104
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11510.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 81; verbal IQ, 103
 25216199
 25216845
  647
 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
 25555222
 25556869
  1648
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11542.p1
 12.5
 F
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 102; verbal IQ, 121
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11557.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11592.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 109; verbal IQ, 122
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11601.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11625.p1
 11.6
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 44; verbal IQ, 14
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11629.p1
 17.6
 M
 Autism
 NA
 Full-scale IQ, 50; non-verbal IQ, 67; verbal IQ, 33
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11654.p1
 8
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 41; verbal IQ, 47
 25216199
 25216845
  647
 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
 25213310
 25216845
  3536
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11716.p1
 16.2
 M
 Autism
 NA
 Full-scale IQ, 48.88; non-verbal IQ, 78; verbal IQ, 20
 25216199
 25216845
  647
 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
 25216199
 25216845
  647
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11792.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 100; verbal IQ, 119
 25216199
 25216845
  647
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11797.p1
 15.3
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 117; verbal IQ, 116
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11846.p1
 15.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
 24198313
 24208369
  10057
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11846.p1
 15.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11855.p1
 14.8
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 94; verbal IQ, 48
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11897.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 84; verbal IQ, 67
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11914.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 81; verbal IQ, 91
 25555222
 25556869
  1648
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11916.p1
 4.8
 F
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 107
 25216199
 25216845
  647
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11969.p1
 14.3
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11982.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 78; verbal IQ, 86
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11998.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 103; verbal IQ, 111
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12029.p1
 8.6
 M
 Autism
 NA
 Full-scale IQ, 103; non-verbal IQ, 108; verbal IQ, 94
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12030.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 101
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12044.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 75; verbal IQ, 76
 25216199
 25216845
  647
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12081.p1
 12.9
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 87; verbal IQ, 92
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12119.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 41
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12175.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 79
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12189.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 87; verbal IQ, 78
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12198.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 119; verbal IQ, 108
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12210.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 18; non-verbal IQ, 19; verbal IQ, 19
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12240.p1
 8.9
 M
 ASD
 NA
 Full-scale IQ, 91; non-verbal IQ, 86; verbal IQ, 104
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12252.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 79; verbal IQ, 106
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12313.p1
 11.8
 F
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 114
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12331.p1
 12.3
 M
 Aspergers
 NA
 Full-scale IQ, 115; non-verbal IQ, 114; verbal IQ, 111
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12362.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 122; non-verbal IQ, 119; verbal IQ, 121
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12363.p1
 14.3
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 108; verbal IQ, 106
 23488013
 23494246
  6234
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12395.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 81
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12403.p1
 11.9
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
 25216199
 25216845
  647
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12423.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 115; verbal IQ, 82
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12460.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 63
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12476.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 100; verbal IQ, 79
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12552.p1
 8.7
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 98
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12588.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 105; verbal IQ, 108
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12598.p1
 17.4
 M
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 83; verbal IQ, 34
 25335112
 25340575
  5464
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12605.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 120; non-verbal IQ, 108; verbal IQ, 136
 25216199
 25216845
  647
 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
 25555222
 25556869
  1648
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12637.p1
 7.3
 M
 ASD
 NA
 Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 96
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12638.p1
 9.9
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 81; verbal IQ, 63
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12651.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 24; non-verbal IQ, 34; verbal IQ, 14
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12691.p1
 10.9
 F
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 32; verbal IQ, 39
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12695.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 49; non-verbal IQ, 56; verbal IQ, 35
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12710.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 81; verbal IQ, 105
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12735.p1
 10.7
 M
 ASD
 NA
 Full-scale IQ, 55; non-verbal IQ, 53; verbal IQ, 59
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12757.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 62; verbal IQ, 55
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12758.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 70
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12790.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 31; non-verbal IQ, 44; verbal IQ, 18
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12792.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 106; verbal IQ, 107
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12796.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 72; verbal IQ, 68
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12805.p1
 8.5
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ, 93
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12809.p1
 5.6
 M
 ASD
 NA
 Full-scale IQ, 86; non-verbal IQ, 88; verbal IQ, 88
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12836.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 121; verbal IQ, 129
 26477737
 26485579
  7843
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12923.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 100; verbal IQ, 87
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12961.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 125; verbal IQ, 93
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12964.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 38; non-verbal IQ, 48; verbal IQ, 28
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13013.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 86
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13014.p1
 16.2
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 103
 25216199
 25221986
  5788
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13015.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
 24026993
 24100680
  73688
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13036.p1
 11.9
 M
 Autism
 NA
 Full-scale IQ, 27; non-verbal IQ, 36; verbal IQ, 19
 26813278
 26822061
  8784
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13056.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 65; verbal IQ, 58
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13056.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 65; verbal IQ, 58
 24018500
 24100680
  82181
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13060.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 98
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13079.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 141; verbal IQ, 128
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13088.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 91; verbal IQ, 67
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13195.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 88; verbal IQ, 63
 25216199
 25227230
  11032
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13222.p1
 17.1
 F
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 86; verbal IQ, 93
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13226.p1
 8.7
 M
 ASD
 NA
 Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 85
 25216199
 25216845
  647
 GRCh38
 Deletion
 No
  stamouli_18_ASD/NDD_discovery_cases-family31_Twin_2
  NA NA
 N/A
 N/A
 ASD/NDD
 Case is from a dizygotic twin pair from the Discordant ASD/Discordant NDD diagnostic group
 
 25466256
 25507603
  41348
 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-controlB271690_1007873316
  N/A
  N/A
  Control
  No previous psychiatric history
 
  25661696
  25724359
  62664
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB761543_1007854154
  N/A
  N/A
  Control
  No previous psychiatric history
 
  25661696
  25736881
  75186
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB836181_0057060970
  N/A
  N/A
  Control
  No previous psychiatric history
 
  25661696
  25727975
  66280
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900063_900063
  N/A
  N/A
  Control
  No previous psychiatric history
 
  24262774
  24316811
  54038
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902817_902817
  N/A
  N/A
  Control
  No previous psychiatric history
 
  25661696
  25727975
  66280
  GRCh38
  Deletion
  No
  krumm_13_ASD_discovery_controls-control12631.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 12631. SRS score N/A.
 
  27520882
  27522508
  1627
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12631.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  27520846
  27522517
  1672
  GRCh38
  Deletion
  Yes
  nord_11_ASD_discovery_controls-04C27511
 
 
  Control
 
 
  25098208
  25140812
  42605
  Unknown
  Deletion
 
  poultney_13_ASD_discovery_controls-control04C29071A
  N/A
  M
  Control
  NIMH Control (NIMH ID 28620)
 
  24463880
  24476506
  12627
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11002.s1
  10.4
  M
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11010.s1
  7.7
  M
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11027.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11038.s1
  6.5
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11067.s1
  16.7
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11073.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11074.s1
  7.3
  M
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11075.s1
  9.9
  M
  Control (matched sibling)
  NA
  NA
  25204291
  25216845
  12555
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11098.s1
  5.7
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11099.s1
  14.5
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11106.s1
  7.2
  M
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11115.s1
  15.8
  F
  Control (matched sibling)
  NA
  NA
  26477737
  26485579
  7843
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11152.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  25555222
  25556869
  1648
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11205.s1
  4.8
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11208.s1
  11.4
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11246.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  25555222
  25556869
  1648
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11266.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11330.s1
  11.8
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11336.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11374.s1
  18.1
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11379.s1
  8.3
  F
  Control (matched sibling)
  NA
  NA
  25555222
  25556869
  1648
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11390.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11436.s1
  6.5
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11441.s1
  4.3
  M
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11510.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11518.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11537.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  25555222
  25556869
  1648
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11542.s1
  14.6
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11543.s1
  18.1
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11568.s1
  16.7
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11601.s1
  9.3
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11627.s1
  8.2
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11629.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11673.s1
  7.9
  M
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11691.s1
  16.3
  M
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11766.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11773.s1
  14.3
  M
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11797.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11827.s1
  20
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11828.s1
  5.5
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11916.s1
  6.9
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11919.s1
  6.7
  M
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11928.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11969.s1
  17.5
  M
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11993.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11998.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12030.s1
  8.2
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12037.s1
  16.8
  M
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12052.s1
  5.4
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12117.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  24195635
  24208708
  13074
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12154.s1
  9.1
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12170.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12184.s1
  10.4
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12187.s1
  10.2
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12206.s1
  13.1
  M
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12210.s1
  18.8
  M
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12243.s1
  13.5
  M
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12252.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12301.s1
  16.8
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12321.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12337.s1
  13.3
  M
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12356.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12363.s1
  21.9
  M
  Control (matched sibling)
  NA
  NA
  23488013
  23494246
  6234
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12376.s1
  14.7
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12424.s1
  6.2
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12497.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12581.s1
  15.7
  M
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12603.s1
  11.7
  M
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12638.s1
  17.8
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12644.s1
  8.1
  M
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12653.s1
  8.5
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12723.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12735.s1
  9.1
  M
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12758.s1
  9.6
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12782.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12788.s1
  11.1
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12790.s1
  8.9
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12792.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12921.s1
  6.5
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12962.s1
  8.3
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13036.s1
  10.2
  F
  Control (matched sibling)
  NA
  NA
  26813278
  26822061
  8784
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13070.s1
  11.6
  M
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13175.s1
  13.7
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13233.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13327.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  25216199
  25216845
  647
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 engchuan_15_ASD_discovery_cases-case3273_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4377_1
 
 
 Unknown
 
 
 
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002104
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RNU1-148P,NEFM,MIR6841,MIR6876,GNRH1,ADAM28,ADAMDEC1,NEFL,ADAM7,DOCK5,KCTD9
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004726
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 NEFM,MIR6841,NEFL,ADAM7
 
 krumm_13_ASD_discovery_cases-case12631.p1
 
 
 Maternal
 Simplex
 Not segregated
 EPHX2
 
 krumm_15_ASD_discovery_cases-case12631.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 EPHX2
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown204
 
 
 Paternal
 Unknown
 Unknown
 ADAM28,ADAMDEC1,ADAM7
 
 prasad_12_ASD_discovery_cases-case88810
 qPCR
 
 Paternal
 Unknown
 Unknown
 ADAM7
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-342
 qPCR (CNV not detected)
 
 Biparental/Diploid copy number
 Unknown
 Unknown
 DOCK5
 
 sanders_11_ASD_discovery_cases-11001.p1
 
 
 Both parents
 Simplex (trio)
 NA
 DOCK5
 
 sanders_11_ASD_discovery_cases-11002.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11010.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11027.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11040.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11049.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11064.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11067.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11075.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11075.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11087.p1
 
 
 Paternal
 Simplex (trio)
 NA
 DOCK5
 
 sanders_11_ASD_discovery_cases-11088.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11090.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11099.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11106.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11124.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11132.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11161.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11179.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11205.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11214.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11225.p1
 
 
 Both parents
 Simplex (quad-proband unmatched)
 Unknown
 DOCK5
 
 sanders_11_ASD_discovery_cases-11229.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11246.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11251.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11301.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11336.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11368.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11376.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11387.p1
 
 
 Paternal
 Simplex (trio)
 NA
 DOCK5
 
 sanders_11_ASD_discovery_cases-11432.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11439.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11441.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11444.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11489.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11510.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11537.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11542.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11557.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11592.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11601.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11625.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11629.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11654.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11681.p1
 
 
 Unknown
 Simplex (trio)
 NA
 DOCK5
 
 sanders_11_ASD_discovery_cases-11716.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11780.p1
 
 
 Both parents
 Simplex (trio)
 NA
 DOCK5
 
 sanders_11_ASD_discovery_cases-11792.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11797.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11846.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11846.p1
 
 
 Maternal
 Simplex (trio)
 NA
 DOCK5
 
 sanders_11_ASD_discovery_cases-11855.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11897.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11914.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11916.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11969.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11982.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-11998.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-12029.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-12030.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-12044.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-12081.p1
 
 
 Maternal
 Simplex (trio)
 NA
 DOCK5
 
 sanders_11_ASD_discovery_cases-12119.p1
 
 
 Maternal
 Simplex (trio)
 NA
 DOCK5
 
 sanders_11_ASD_discovery_cases-12175.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-12189.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-12198.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-12210.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-12240.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-12252.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-12313.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-12331.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-12362.p1
 
 
 Paternal
 Simplex (trio)
 NA
 DOCK5
 
 sanders_11_ASD_discovery_cases-12363.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12395.p1
 
 
 Paternal
 Simplex (trio)
 NA
 DOCK5
 
 sanders_11_ASD_discovery_cases-12403.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-12423.p1
 
 
 Both parents
 Simplex (quad-proband unmatched)
 Unknown
 DOCK5
 
 sanders_11_ASD_discovery_cases-12460.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-12476.p1
 
 
 Both parents
 Simplex (trio)
 NA
 DOCK5
 
 sanders_11_ASD_discovery_cases-12552.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-12588.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-12598.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-12605.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-12628.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12637.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-12638.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-12651.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-12691.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-12695.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-12710.p1
 
 
 Maternal
 Simplex (trio)
 NA
 DOCK5
 
 sanders_11_ASD_discovery_cases-12735.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-12757.p1
 
 
 Paternal
 Simplex (trio)
 NA
 DOCK5
 
 sanders_11_ASD_discovery_cases-12758.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-12790.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-12792.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-12796.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-12805.p1
 
 
 Maternal
 Simplex (trio)
 NA
 DOCK5
 
 sanders_11_ASD_discovery_cases-12809.p1
 
 
 Both parents
 Simplex (trio)
 NA
 DOCK5
 
 sanders_11_ASD_discovery_cases-12836.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 BNIP3L
 
 sanders_11_ASD_discovery_cases-12923.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-12961.p1
 
 
 Both parents
 Simplex (trio)
 NA
 DOCK5
 
 sanders_11_ASD_discovery_cases-12964.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-13013.p1
 
 
 Maternal
 Simplex (trio)
 NA
 DOCK5
 
 sanders_11_ASD_discovery_cases-13014.p1
 
 
 Paternal
 Simplex (trio)
 NA
 DOCK5
 
 sanders_11_ASD_discovery_cases-13015.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 RNU1-148P
 
 sanders_11_ASD_discovery_cases-13036.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ADRA1A
 
 sanders_11_ASD_discovery_cases-13056.p1
 
 
 Both parents
 Simplex (trio)
 NA
 DOCK5
 
 sanders_11_ASD_discovery_cases-13056.p1
 
 
 Maternal
 Simplex (trio)
 NA
 RNU1-148P
 
 sanders_11_ASD_discovery_cases-13060.p1
 
 
 Maternal
 Simplex (trio)
 NA
 DOCK5
 
 sanders_11_ASD_discovery_cases-13079.p1
 
 
 Paternal
 Simplex (trio)
 NA
 DOCK5
 
 sanders_11_ASD_discovery_cases-13088.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-13195.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-13222.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 sanders_11_ASD_discovery_cases-13226.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DOCK5
 
 stamouli_18_ASD/NDD_discovery_cases-family31_Twin_2
 
 
 Unknown
 Simplex
 Segregated (CNV not present in unaffected twin)
 CDCA2
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB271690_1007873316
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB761543_1007854154
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB836181_0057060970
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900063_900063
 
 
  Unknown
 
 
  ADAM28
 
engchuan_15_ASD_discovery_controls-controlHABC_902817_902817
 
 
  Unknown
 
 
 
 
krumm_13_ASD_discovery_controls-control12631.s1
  aCGH (Agilent SurePrint G3 4x180K)
 
  Maternal
  Simplex
 
  EPHX2
 
krumm_15_ASD_discovery_controls-control12631.s1
  Illumina 1MDuo
 
  Maternal
 
 
  EPHX2
 
nord_11_ASD_discovery_controls-04C27511
 
 
 
 
 
  DOCK5
 
poultney_13_ASD_discovery_controls-control04C29071A
 
 
  Unknown
 
 
  ADAM7
 
sanders_11_ASD_discovery_controls-11002.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11010.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11027.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11038.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11067.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11073.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11074.s1
 
 
  Unknown
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11075.s1
 
 
  Unknown
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11098.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11099.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11106.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11115.s1
 
 
  Paternal
  Simplex (quad)
  NA
  BNIP3L
 
sanders_11_ASD_discovery_controls-11152.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11205.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11208.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11246.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11266.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11330.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11336.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11374.s1
 
 
  Unknown
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11379.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11390.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11436.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11441.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11510.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11518.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11537.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11542.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11543.s1
 
 
  Unknown
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11568.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11601.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11627.s1
 
 
  Unknown
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11629.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11673.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11691.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11766.s1
 
 
  Unknown
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11773.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11797.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11827.s1
 
 
  Unknown
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11828.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11916.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11919.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11928.s1
 
 
  Unknown
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11969.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11993.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-11998.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12030.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12037.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12052.s1
 
 
  Unknown
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12117.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12154.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12170.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12184.s1
 
 
  Unknown
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12187.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12206.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12210.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12243.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12252.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12301.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12321.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12337.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12356.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12363.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12376.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12424.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12497.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12581.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12603.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12638.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12644.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12653.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12723.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12735.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12758.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12782.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12788.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12790.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12792.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12921.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-12962.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-13036.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ADRA1A
 
sanders_11_ASD_discovery_controls-13070.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-13175.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-13233.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DOCK5
 
sanders_11_ASD_discovery_controls-13327.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DOCK5
 

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