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Xq11.1CNV Type: Deletion-Duplication


Largest CNV size: 473233 bp

Statistics Box:
Number of Reports: 8


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
Autism spectrum disorder in females with ARHGEF9 alterations and a random pattern of X chromosome inactivation.
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
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Duplication
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 aarabi_18_ASD/DD/ID_discovery_cases
 Unrelated female patients with de novo intragenic ARHGEF9 deletions and random X-chromosome inactivation
 2
 Both cases presented with ASD and developmental delay/intellectual disability
 Range, 10-17 yrs.
 Female
 56500
 2
 0
 2
 chung_11_ASD_discovery_cases
 Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)
 1
 ASD (ADI-R and ADOS, Module 3)
 12
 Female
 55472
 0
 1
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 169380
 1
 25
 26
 gannon_11_ASD/DD_discovery_cases
 Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
 187
 Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
 Mean age, ~44 mos.
 ~82% Male
 677000
 0
 1
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 760556
 0
 2
 2
 lionel_13_ASD/SCZ/EP_discovery_cases
 Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
 5384
 ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
 NA
 NA
 64110
 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
 341640
 2
 2
 4
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 473233
 6
 134
 140

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
 435778
 0
 9
 9
 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
 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.
 
 23317
 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)
 341640
 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.
 
 628171
 3
 73
 76

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 aarabi_18_ASD/DD/ID_discovery_cases
  Ashkenazi Jewish (n=1), European (n=1)
 aCGH
  Agilent 180K
 
 
 Agilent custom X-chromosome high-resolution (X-HR) 4x180K
 chung_11_ASD_discovery_cases
  Scottish-Canadian
 Array SNP
  Affymetrix 6.0
 HMM
 Affymetrix Genotyping Console v.2.1, Birdseed v.2
 
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gannon_11_ASD/DD_discovery_cases
  Gulf Coast of Alabama, Mississippi, & Florida
 aCGH
  Genome-wide oligo array with 44K platform
 
 
 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
 lionel_13_ASD/SCZ/EP_discovery_cases
  NA
 aCGH, array SNP
  Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
 
 Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  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
 
  qPCR

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  aarabi_18_ASD/DD/ID_discovery_cases-caseFP1
 17 yrs.
 F
 ASD, developmental delay, and intellectual disability
 Birth/neonatal history: one of the triplets born vaginally at 36 weeks gestation to a 36-year-old gravida 2, para 1, miscarriage 1 woman, conceived through hormonal stimulation and intrauterine insemination; pregnancy complicated by gestational diabetes and preterm labor at 28 weeks; short for gestational age, hypotonia, and low blood glucose. Developmental milestones: developmental delay, speech delay. Motor and musculoskeletal evaluation: delayed bone age. Behavioral/psychiatric evaluation: ASD, behavioral problems. Epilepsy/seizures: none. Brain imaging: normal brain MRI. Additional medical history: diagnosed with Hashimoto type hypothyroidism at age of 8 years. Dysmorphic features: large palpebral apertures, three shallow sacral dimples, hypertrichosis. Growth parameters: short stature (< 3rd %ile) at 2 years. Family history: parents of Ashkenazi Jewish ancestry with no known consanguineity; maternal history significant for lupus and hypothyroidism; twin brothers with unremarkable post-natal course.
 Intellectual disability (low IQ)
 63654710
 63680943
  26234
 GRCh38
 Deletion
 Yes
  aarabi_18_ASD/DD/ID_discovery_cases-caseFP2
 10 yrs.
 F
 ASD and developmental delay
 Birth/neonatal history: born at term to a 33-year-old gravida 3, para 2, miscarriage 1 mother after an uncomplicated pregnancy. Developmental milestones: delayed motor milestones and lack of socialization noted at 6 months, speech delay. Behavioral/psychiatric evaluation: diagnosis of ASD; spells of repetitive rocking behavior, social difficulties. Epilepsy/seizures: none. EEG: normal. Brain imaging: small foci of gliosis adjacent to the frontal horns of the lateral ventricles bilaterally. Dysmorphic features: narrow palperbal fissures, deep-set eyes. Growth parameters: short stature (height 5th-10th %ile). Family history: parents from European ancestry with no known consanguineity; both parents and sister are healthy.
 
 63652659
 63709213
  56555
 GRCh38
 Deletion
 Yes
  chung_11_ASD_discovery_cases-proband
 12
 F
 ASD
 Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
 WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
 63230507
 63285979
  55473
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13049_583
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 64258422
 64293379
  34958
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14288_4090
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63137556
 63285676
  148121
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20020_1104001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63126608
 63285676
  159069
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20039_1244001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63128799
 63292114
  163316
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20084_1375002
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63137556
 63292114
  154559
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20108_1501002
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63127879
 63285676
  157798
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20127_4014001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63126608
 63285676
  159069
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case21054_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63233631
 63285676
  52046
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3491_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63128799
 63297772
  168974
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5085_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63221206
 63282637
  61432
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5350_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63221206
 63282637
  61432
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5557_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63221206
 63285676
  64471
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6212_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63128799
 63292114
  163316
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6396_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63128799
 63292114
  163316
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6408_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63144347
 63292114
  147768
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8463_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63128799
 63285676
  156878
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8475_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63137556
 63292114
  154559
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8551_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63137556
 63285676
  148121
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8559_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63137556
 63292114
  154559
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8626_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63128799
 63285676
  156878
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8635_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63128799
 63292114
  163316
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8643_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63128799
 63292114
  163316
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8709_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63137556
 63285676
  148121
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8712_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63128799
 63292114
  163316
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8727_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63137556
 63292114
  154559
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case9759_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63128799
 63285676
  156878
 GRCh38
 Duplication
 No
  gannon_11_ASD/DD_discovery_cases-patient12
 
 
 ASD
 Marked dysmorphism (Hypertelorism, prominent nasal bridge, unusual flare of eyebrows, prominent forehead, and left esotropia)
 IQ70
 NA
 NA
  677000
 Unknown
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000099
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 63514988
 64270642
  755655
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001716
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 64145374
 64905930
  760557
 GRCh38
 Duplication
 Yes
  lionel_13_ASD/SCZ/EP_discovery_cases-proband5
 24 yrs.
 M
 Schizophrenia
 Diagnosis of chronic schizophrenia confirmed through use of detailed psychiatric assessment, including use of a modified version of Strructed Clinical Interviews for DSM-III-R for Axis I disorder. Developmental milestones: no evidence of developmental delay. Behavioral/psychiatric evaluation: increasing anxiety, preoccupation, and paranoia at 23 years (responded well ti a few months of treatment with chloropromazine); admitted to hospital for schizophrenia at 24 years of age; improved with electroconvulsive therapy and was discharged for two months; following two additional hospitalizations, case has been relatively stable on standard antipsychotic medication regiment with an adjuvant antidepressant for many years. no evidence of autistic features. Epilepsy/seizures: no history of seizures. Dysmorphic features: no significant dysmorphology. Family history: non-consanguineous parents; no known history of neuropsychiatric illness or seizures in parents or siblings; significant history of schizophrenia in paternal extended family.
 Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.
 63221880
 63285991
  64112
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case129914
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 64941209
 64959944
  18736
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case59269L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 63426544
 63735448
  308905
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case73891
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 62321746
 62663385
  341640
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case75979L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 64941209
 64959944
  18736
 Unknown
 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
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11069.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 96; verbal IQ, 83
 63201306
 63304417
  103112
 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
 62463068
 62511015
  47948
 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
 62463068
 62651758
  188691
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11202.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ 71
 62463068
 62499820
  36753
 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
 62463068
 62563261
  100194
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11232.p1
 8.7
 M
 ASD
 NA
 Full-scale IQ, 74; non-verbal IQ, 68; verbal IQ 91
 62463068
 62651758
  188691
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11255.p1
 12.7
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 108; verbal IQ 130
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11297.p1
 12.8
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 98; verbal IQ 73
 62463068
 62499820
  36753
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11394.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 74; verbal IQ 87
 62463068
 62492415
  29348
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11463.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 98; verbal IQ, 79
 63193344
 63304417
  111074
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11488.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 99; verbal IQ, 80
 62463068
 62615736
  152669
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11518.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 13
 62463068
 62499820
  36753
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11580.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 88; verbal IQ, 64
 62463068
 62665165
  202098
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11615.p1
 12.6
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 83; verbal IQ, 89
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11617.p1
 15.3
 M
 Autism
 NA
 Full-scale IQ, 35; non-verbal IQ, 39; verbal IQ, 27
 62463068
 62526467
  63400
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11629.p1
 17.6
 M
 Autism
 NA
 Full-scale IQ, 50; non-verbal IQ, 67; verbal IQ, 33
 62463068
 62492415
  29348
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11634.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 56; verbal IQ, 63
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11723.p1
 6.9
 M
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 105
 62463068
 62499820
  36753
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11731.p1
 9.1
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 82; verbal IQ, 60
 65758106
 65841390
  83285
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11839.p1
 4
 M
 ASD
 NA
 Full-scale IQ, 100; non-verbal IQ, 101; verbal IQ, 99
 63467895
 63479597
  11703
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11851.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 92; verbal IQ, 121
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11894.p1
 5.4
 M
 ASD
 NA
 Full-scale IQ, 114; non-verbal IQ, 104; verbal IQ, 125
 62463068
 62499820
  36753
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11917.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 115; verbal IQ, 71
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12008.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 106; verbal IQ, 128
 62463068
 62483783
  20716
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12014.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 107; verbal IQ, 133
 62463068
 62483783
  20716
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12026.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 51; non-verbal IQ, 72; verbal IQ, 36
 62463068
 62499820
  36753
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12046.p1
 12.6
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 88; verbal IQ, 87
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12057.p1
 12.1
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 50; verbal IQ, 29
 64784468
 64852242
  67775
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12086.p1
 14.5
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 108; verbal IQ, 131
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12108.p1
 13.9
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 63; verbal IQ, 74
 62463068
 62483783
  20716
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12120.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 115; verbal IQ, 85
 62463068
 62499820
  36753
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12137.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
 62463068
 62492415
  29348
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12144.p1
 4.9
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 93; verbal IQ, 81
 62463068
 62499820
  36753
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12157.p1
 14.7
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 91; verbal IQ, 93
 62463068
 62483783
  20716
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12162.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 68; verbal IQ, 75
 62463068
 62499820
  36753
 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
 62463068
 62479802
  16735
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12223.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 104; verbal IQ, 80
 62463068
 62499820
  36753
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12225.p1
 15.3
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 77
 62463068
 62499820
  36753
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12229.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 89; verbal IQ, 80
 62463068
 62499820
  36753
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12232.p1
 7.7
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 74; verbal IQ, 51
 62463068
 62492415
  29348
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12238.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 90; verbal IQ, 84
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12240.p1
 8.9
 M
 ASD
 NA
 Full-scale IQ, 91; non-verbal IQ, 86; verbal IQ, 104
 62463068
 62479802
  16735
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12243.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 107
 62463068
 62483783
  20716
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12247.p1
 4.7
 M
 ASD
 NA
 Full-scale IQ, 109; non-verbal IQ, 111; verbal IQ, 104
 62463068
 62483783
  20716
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12252.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 79; verbal IQ, 106
 62463068
 62492415
  29348
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12264.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 41; non-verbal IQ, 49; verbal IQ, 36
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12271.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 41; non-verbal IQ, 41; verbal IQ, 40
 62463068
 62483783
  20716
 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
 62463068
 62479802
  16735
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12275.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 107
 62463068
 62651758
  188691
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12284.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 70; non-verbal IQ, 77; verbal IQ, 61
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12287.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 55; verbal IQ, 28
 64661504
 64665864
  4361
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12287.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 55; verbal IQ, 28
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12289.p1
 12.2
 M
 ASD
 NA
 Full-scale IQ, 101; non-verbal IQ, 109; verbal IQ, 86
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12303.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 74; verbal IQ, 96
 62463068
 62483783
  20716
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12306.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 57; verbal IQ, 84
 62463068
 62483783
  20716
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12313.p1
 11.8
 F
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 114
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12314.p1
 6.2
 M
 ASD
 NA
 Full-scale IQ, 116; non-verbal IQ, 121; verbal IQ, 103
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12316.p1
 12.5
 M
 ASD
 NA
 Full-scale IQ, 112; non-verbal IQ, 109; verbal IQ, 114
 62463068
 62492415
  29348
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12317.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 92; verbal IQ, 95
 62463068
 62511015
  47948
 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
 62463068
 62499820
  36753
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12334.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 75
 62463068
 62511015
  47948
 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
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12339.p1
 15.5
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 63; verbal IQ, 33
 62463068
 62499820
  36753
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12343.p1
 6.2
 F
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 18
 62511015
 62615736
  104722
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12345.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
 62463068
 62483783
  20716
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12346.p1
 13.4
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 77; verbal IQ, 106
 62463068
 62483783
  20716
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12360.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 101
 62463068
 62929219
  466152
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12369.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 59; verbal IQ, 50
 62463068
 62499820
  36753
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12396.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12409.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 106; verbal IQ, 109
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12415.p1
 12.8
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 89
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12438.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 93; verbal IQ, 74
 62463068
 62483783
  20716
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12441.p1
 13.7
 M
 Autism
 NA
 Full-scale IQ, 28; non-verbal IQ, 32; verbal IQ, 18
 62463068
 62499820
  36753
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12448.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 116
 62463068
 62479802
  16735
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12454.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 82; verbal IQ, 62
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12462.p1
 16.8
 M
 Autism
 NA
 Full-scale IQ, 112; non-verbal IQ, 113; verbal IQ, 108
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12463.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 94; verbal IQ, 73
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12480.p1
 13.1
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 96
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12494.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 56
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12501.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 98
 65464872
 65646481
  181610
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12501.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 98
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12565.p1
 10.6
 F
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
 62463068
 62511015
  47948
 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
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12575.p1
 17
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 98; verbal IQ, 109
 62463068
 62492415
  29348
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12582.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 73; verbal IQ, 45
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12592.p1
 8.2
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 119; verbal IQ, 106
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12596.p1
 4.9
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 89; verbal IQ, 32
 62463068
 62499820
  36753
 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
 64778421
 64852242
  73822
 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
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12606.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 59; verbal IQ, 62
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12607.p1
 5.3
 M
 ASD
 NA
 Full-scale IQ, 105; non-verbal IQ, 104; verbal IQ, 104
 62463068
 62483783
  20716
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12628.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 102; verbal IQ, 120
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12629.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 110; non-verbal IQ, 113; verbal IQ, 101
 62463068
 62492415
  29348
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12640.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 112; non-verbal IQ, 118; verbal IQ, 99
 62463068
 62483783
  20716
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12643.p1
 10.6
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 70; verbal IQ, 40
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12652.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 79; verbal IQ, 69
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12664.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 96; verbal IQ, 89
 62463068
 62936301
  473234
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12671.p1
 12.8
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 98; verbal IQ, 108
 62463068
 62483783
  20716
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12674.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 86
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12695.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 49; non-verbal IQ, 56; verbal IQ, 35
 62463068
 62511015
  47948
 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
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12736.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 111; verbal IQ, 86
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12739.p1
 6.8
 M
 ASD
 NA
 Full-scale IQ, 98; non-verbal IQ, 112; verbal IQ, 77
 62463068
 62499820
  36753
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12743.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 114; verbal IQ, 108
 62463068
 62511015
  47948
 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
 62463068
 62499820
  36753
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12781.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ, 75
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12785.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 88
 62463068
 62479802
  16735
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12786.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 90; verbal IQ, 87
 62463068
 62499820
  36753
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12788.p1
 12.5
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 94; verbal IQ, 95
 62463068
 62499820
  36753
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12794.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 96; verbal IQ, 97
 62463068
 62492415
  29348
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12799.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 49
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12810.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 58; verbal IQ, 77
 62463068
 62499820
  36753
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12820.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 72; verbal IQ, 47
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12829.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 133; non-verbal IQ, 134; verbal IQ, 117
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12865.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 96; verbal IQ, 97
 62463068
 62524233
  61166
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12901.p1
 5.4
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 116; verbal IQ, 110
 62463068
 62499820
  36753
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12907.p1
 13.8
 M
 ASD
 NA
 Full-scale IQ, 114; non-verbal IQ, 116; verbal IQ, 108
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12938.p1
 15.3
 M
 Autism
 NA
 Full-scale IQ, 29; non-verbal IQ, 36; verbal IQ, 21
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12941.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 93; verbal IQ, 96
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12948.p1
 17.9
 F
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 57; verbal IQ, 81
 62576730
 62615736
  39007
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12961.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 125; verbal IQ, 93
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12998.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 116; verbal IQ, 93
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13014.p1
 16.2
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 103
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13019.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 52; verbal IQ, 20
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13033.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 67; verbal IQ, 43
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13035.p1
 4.8
 F
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 83
 65197059
 65205358
  8300
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13045.p1
 11.1
 M
 Autism
 NA
 Full-scale IQ, 37; non-verbal IQ, 38; verbal IQ, 35
 62463068
 62499820
  36753
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13060.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 98
 62463068
 62499820
  36753
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13063.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 49; non-verbal IQ, 62; verbal IQ, 30
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13067.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 99; verbal IQ, 88
 62463068
 62511015
  47948
 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
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13083.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 52; non-verbal IQ, 67; verbal IQ, 23
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13104.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 94; verbal IQ, 103
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13192.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ, 94
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13218.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 98; verbal IQ, 93
 62463068
 62499820
  36753
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13244.p1
 15.7
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 74; verbal IQ, 63
 62463068
 62499820
  36753
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13301.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 95; verbal IQ, 124
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13367.p1
 9.7
 F
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 57; verbal IQ, 46
 62463068
 62511015
  47948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13388.p1
 5.4
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 81; verbal IQ, 113
 62463068
 62511015
  47948
 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-controlHABC_900457_900457
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63246101
  63285676
  39576
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900800_900800
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63221206
  63285676
  64471
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901012_901012
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63233631
  63292114
  58484
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901088_901088
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63249128
  63285676
  36549
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901105_901105
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63249128
  63285676
  36549
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902443_902443
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63137556
  63572924
  435369
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902633_902633
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63233631
  63285676
  52046
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902744_902744
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63230778
  63292114
  61337
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902853_902853
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63246101
  63285676
  39576
  GRCh38
  Duplication
  No
  nord_11_ASD_discovery_controls-04C27646
 
 
  Control
 
 
  64939564
  64962880
  23317
  Unknown
  Deletion
 
  sanders_11_ASD_discovery_controls-11115.s1
  15.8
  F
  Control (matched sibling)
  NA
  NA
  62524233
  62547751
  23519
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11161.s1
  9.3
  F
  Control (matched sibling)
  NA
  NA
  63230778
  63304417
  73640
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11367.s1
  4.6
  F
  Control (matched sibling)
  NA
  NA
  62463068
  62499820
  36753
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11376.s1
  23.8
  F
  Control (matched sibling)
  NA
  NA
  62463068
  62615736
  152669
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11444.s1
  19.5
  F
  Control (matched sibling)
  NA
  NA
  62463068
  62665165
  202098
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11489.s1
  15.8
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62511015
  47948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11653.s1
  5
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62511015
  47948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11857.s1
  12.5
  F
  Control (matched sibling)
  NA
  NA
  63221206
  63292114
  70909
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11894.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62511015
  47948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11919.s1
  6.7
  M
  Control (matched sibling)
  NA
  NA
  63010772
  63070932
  60161
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11962.s1
  7.8
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62499820
  36753
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12007.s1
  10.9
  M
  Control (matched sibling)
  NA
  NA
  63128799
  63304417
  175619
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12011.s1
  10
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62483783
  20716
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12014.s1
  4.3
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62479802
  16735
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12057.s1
  14.3
  F
  Control (matched sibling)
  NA
  NA
  64788052
  64841461
  53410
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12086.s1
  25.2
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62511015
  47948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12175.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  63126608
  63160812
  34205
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12175.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  63221206
  63285676
  64471
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12224.s1
  6
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62499820
  36753
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12225.s1
  16.4
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62511015
  47948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12227.s1
  10.3
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62483783
  20716
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12231.s1
  12.3
  F
  Control (matched sibling)
  NA
  NA
  62463068
  62511015
  47948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12235.s1
  6.7
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62511015
  47948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12239.s1
  7.4
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62511015
  47948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12241.s1
  6.2
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62492415
  29348
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12243.s1
  13.5
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62492415
  29348
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12252.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  64520714
  64614884
  94171
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12271.s1
  9.1
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62492415
  29348
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12275.s1
  8.4
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62511015
  47948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12289.s1
  16.3
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62511015
  47948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12316.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62492415
  29348
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12331.s1
  9.6
  F
  Control (matched sibling)
  NA
  NA
  64188508
  64700207
  511700
  GRCh38
  Duplication
  Yes
  sanders_11_ASD_discovery_controls-12331.s1
  9.6
  F
  Control (matched sibling)
  NA
  NA
  64955859
  65584030
  628172
  GRCh38
  Duplication
  Yes
  sanders_11_ASD_discovery_controls-12335.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  63230778
  63279087
  48310
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12360.s1
  7.9
  F
  Control (matched sibling)
  NA
  NA
  62524233
  62936301
  412069
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12368.s1
  7.2
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62499820
  36753
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12375.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  62463068
  62945733
  482666
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12380.s1
  17
  F
  Control (matched sibling)
  NA
  NA
  63221206
  63285676
  64471
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12385.s1
  10.7
  F
  Control (matched sibling)
  NA
  NA
  62671970
  62936301
  264332
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12385.s1
  10.7
  F
  Control (matched sibling)
  NA
  NA
  62524233
  62554706
  30474
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12438.s1
  6.4
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62492415
  29348
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12441.s1
  10.6
  F
  Control (matched sibling)
  NA
  NA
  63230778
  63292114
  61337
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12444.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62483783
  20716
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12445.s1
  6.6
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62499820
  36753
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12457.s1
  5.6
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62544594
  81527
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12460.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62483783
  20716
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12501.s1
  8.1
  M
  Control (matched sibling)
  NA
  NA
  65453342
  65646481
  193140
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12510.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62511015
  47948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12541.s1
  8.3
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62511015
  47948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12565.s1
  8.6
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62499820
  36753
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12573.s1
  11.7
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62499820
  36753
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12575.s1
  18.6
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62511015
  47948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12582.s1
  9.2
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62511015
  47948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12588.s1
  5.4
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62511015
  47948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12605.s1
  13.3
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62511015
  47948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12623.s1
  8.8
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62511015
  47948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12631.s1
  18.8
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62483783
  20716
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12646.s1
  16.5
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62483783
  20716
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12648.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  62463068
  62764552
  301485
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12651.s1
  15.8
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62526467
  63400
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12679.s1
  0
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62511015
  47948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12682.s1
  8.1
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62511015
  47948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12743.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62511015
  47948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12748.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62511015
  47948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12794.s1
  6.3
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62492415
  29348
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12829.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62511015
  47948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12901.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62499820
  36753
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12924.s1
  7.9
  F
  Control (matched sibling)
  NA
  NA
  62463068
  62511015
  47948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12956.s1
  7.4
  F
  Control (matched sibling)
  NA
  NA
  62463068
  62511015
  47948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13035.s1
  12.8
  F
  Control (matched sibling)
  NA
  NA
  65197059
  65205358
  8300
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13104.s1
  8.1
  F
  Control (matched sibling)
  NA
  NA
  62463068
  62936301
  473234
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13135.s1
  17.1
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62511015
  47948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13144.s1
  4.9
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62483783
  20716
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13222.s1
  13.5
  F
  Control (matched sibling)
  NA
  NA
  62524233
  62936301
  412069
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13301.s1
  12.3
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62499820
  36753
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13303.s1
  17.5
  M
  Control (matched sibling)
  NA
  NA
  62463068
  62511015
  47948
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 aarabi_18_ASD/DD/ID_discovery_cases-caseFP1
 Agilent custom X-chromosome high-resolution (X-HR) 4x180K
 
 De novo
 Simplex
 Likely segregated
 ARHGEF9-IT1,ARHGEF9
 
 aarabi_18_ASD/DD/ID_discovery_cases-caseFP2
 Agilent custom X-chromosome high-resolution (X-HR) 4x180K
 
 De novo
 Simplex
 Likely segregated
 ARHGEF9-IT1,ARHGEF9
 
 chung_11_ASD_discovery_cases-proband
 
 
 Paternal
 Simplex
 NA
 
 
 engchuan_15_ASD_discovery_cases-case13049_583
 
 
 Unknown
 
 
 MTMR8
 
 engchuan_15_ASD_discovery_cases-case14288_4090
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case20020_1104001
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case20039_1244001
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case20084_1375002
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case20108_1501002
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case20127_4014001
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case21054_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3491_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5085_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5350_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5557_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6212_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6396_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6408_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8463_202
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8475_202
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8551_201
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8559_201
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8626_201
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8635_201
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8643_201
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8709_201
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8712_201
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8727_201
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case9759_201
 
 
 Unknown
 
 
 
 
 gannon_11_ASD/DD_discovery_cases-patient12
 
 
 Unknown
 Unknown
 
 NA
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000099
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 ARHGEF9-IT1,BTF3P8,MIR1468,RN7SL799P,HNRNPDP1,AMER1,LINC01278,ARHGEF9,ASB12,MTMR8
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001716
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RN7SL799P,SHC1P1,YWHAZP7,KRT8P27,GRPEL2P2,BLOC1S2P1,AMER1,PFN5P,ASB12,MTMR8
 
 lionel_13_ASD/SCZ/EP_discovery_cases-proband5
 
 
 Unknown
 Simplex
 Unknown
 
 
 prasad_12_ASD_discovery_cases-case129914
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case59269L
 
 
 Unknown
 Unknown
 Unknown
 MTMR8
 
 prasad_12_ASD_discovery_cases-case73891
 
 
 Unknown
 Unknown
 Unknown
 SPIN4,LOC92249
 
 prasad_12_ASD_discovery_cases-case75979L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11001.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11069.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 CBX1P1
 
 sanders_11_ASD_discovery_cases-11134.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11179.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11202.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11229.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11232.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11255.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11297.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11394.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11463.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 CBX1P1
 
 sanders_11_ASD_discovery_cases-11488.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11518.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11580.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11615.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11617.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11629.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11634.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11723.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11731.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 NANOGP9,ETF1P3
 
 sanders_11_ASD_discovery_cases-11839.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01278
 
 sanders_11_ASD_discovery_cases-11851.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11894.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11917.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12008.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12014.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12026.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12046.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12057.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12086.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12108.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12120.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12137.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12144.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12157.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12162.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12192.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12223.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12225.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12229.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12232.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12238.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12240.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12243.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12247.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12252.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12264.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12271.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12272.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12275.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12284.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12287.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12287.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12289.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12303.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12306.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12313.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12314.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12316.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12317.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12331.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12334.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12337.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12339.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12343.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12345.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12346.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12360.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 MTND1P31,MTND2P25,ZFRP1
 
 sanders_11_ASD_discovery_cases-12369.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12396.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12409.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12415.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12438.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12441.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12448.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12454.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12462.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12463.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12480.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12494.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12501.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 LAS1L,FRMD8P1,ZC3H12B,MSN
 
 sanders_11_ASD_discovery_cases-12501.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12565.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-12568.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12575.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12582.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12592.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12596.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12600.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12605.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12606.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12607.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12628.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12629.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12640.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12643.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12652.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12664.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 MTND1P31,MTND2P25,ZFRP1
 
 sanders_11_ASD_discovery_cases-12671.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12674.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12695.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12723.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12736.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12739.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12743.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12759.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12781.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12785.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12786.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12788.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12794.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12799.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12810.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12820.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12829.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12865.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12901.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12907.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12938.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12941.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12948.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12961.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12998.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13014.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13019.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13033.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13035.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13045.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13060.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13063.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13067.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13070.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13083.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13104.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13192.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-13218.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-13244.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13301.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13367.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13388.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900457_900457
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900800_900800
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901012_901012
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901088_901088
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901105_901105
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902443_902443
 
 
  Unknown
 
 
  CBX1P1,SPIN4,SPIN4-AS1,LINC01278
 
engchuan_15_ASD_discovery_controls-controlHABC_902633_902633
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902744_902744
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902853_902853
 
 
  Unknown
 
 
 
 
nord_11_ASD_discovery_controls-04C27646
 
 
 
 
 
  0 genes
 
sanders_11_ASD_discovery_controls-11115.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11161.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CBX1P1
 
sanders_11_ASD_discovery_controls-11367.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11376.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11444.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11489.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11653.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11857.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11894.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11919.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11962.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12007.s1
 
 
  Unknown
  Simplex (quad)
  NA
  CBX1P1
 
sanders_11_ASD_discovery_controls-12011.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12014.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12057.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12086.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12175.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12175.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12224.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12225.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12227.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12231.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12235.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12239.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12241.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12243.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12252.s1
 
 
  Unknown
  Simplex (quad)
  NA
  YWHAZP7
 
sanders_11_ASD_discovery_controls-12271.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12275.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12289.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12316.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12331.s1
  qPCR
 
  De Novo
  Simplex (quad)
  NA
  RN7SL799P,SHC1P1,YWHAZP7,KRT8P27,GRPEL2P2,AMER1,PFN5P,ASB12,MTMR8
 
sanders_11_ASD_discovery_controls-12331.s1
  qPCR
 
  De Novo
  Simplex (quad)
  NA
  CCT4P2,MORF4L1P5,TLE1P1,LAS1L,FRMD8P1,ZC3H12B,ZC4H2
 
sanders_11_ASD_discovery_controls-12335.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12360.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTND1P31,MTND2P25,ZFRP1
 
sanders_11_ASD_discovery_controls-12368.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12375.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MTND1P31,MTND2P25,ZFRP1
 
sanders_11_ASD_discovery_controls-12380.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12385.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MTND1P31,MTND2P25,ZFRP1
 
sanders_11_ASD_discovery_controls-12385.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12438.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12441.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12444.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12445.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12457.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12460.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12501.s1
 
 
  Unknown
  Simplex (quad)
  NA
  LAS1L,FRMD8P1,ZC3H12B,MSN
 
sanders_11_ASD_discovery_controls-12510.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12541.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12565.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12573.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12575.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12582.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12588.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12605.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12623.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12631.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12646.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12648.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12651.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12679.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12682.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12743.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12748.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12794.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12829.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12901.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12924.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12956.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13035.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13104.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MTND1P31,MTND2P25,ZFRP1
 
sanders_11_ASD_discovery_controls-13135.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13144.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13222.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTND1P31,MTND2P25,ZFRP1
 
sanders_11_ASD_discovery_controls-13301.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13303.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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