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2p22.1CNV Type: Deletion-Duplication


Largest CNV size: 137202 bp

Statistics Box:
Number of Reports: 16


Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Excess of rare, inherited truncating mutations in autism.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
NA
Deletion
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 beunders_13_DD/ID/ASD_discovery_cases
 Individuals from ten diagnostic centers in the Netherlands, Belgium, Great Britian, the United States, and Canada
 49684
 Intellectual disability and/or mulitple congenital anomalies
 NA
 NA
 417323
 0
 1
 1
 davis_09_ASD_discovery_cases
 Autistic cases from Autism Genetic Research Exchange (AGRE)
 36
 ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
 NA
 NA
 91252
 1
 0
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 137201
 4
 1
 5
 engwerda_18_ASD/DD/ID_discovery_cases
  NA NA
 Newly identified individuals with proximal 6q deletions recruited by the Chromosome 6 Project
 20
 Developmental delay, intellectual disability, autism spectrum disorder, connective tissue disorders, and/or heart defects were among the most frequently observed phenotypes in this cohort
 Median age: 5 years 5 months
 65.0% Male
 311681
 0
 1
 1
 fitzgerald_14_ASD/DD/ID_discovery_cases
 Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
 1133
 Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
 Median age, 5.5 years
 N/A
 25433
 1
 0
 1
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 137202
 3
 0
 3
 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
 690601
 0
 3
 3
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 16658
 0
 87
 87
 leblond_12_ASD_discovery_cases
 ASD cases recruited by the PARIS (Paris Autism Research International Sibpair) study at specialized centers disposed in France, Sweden, Germany, Finland, and the UK.
 260
 171 cases with autism, 20 cases with atypical autism, 69 cases with Asperger syndrome (ADOS and either ADI-R or DISCO-10 used for diagnosis). 79 cases with IQ>70, 133 cases with IQ<70, 48 cases with unknown IQ.
 
 74.6% Male
 12866
 0
 1
 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
 110000
 1
 0
 1
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 60926
 1
 0
 1
 mosca_16_DCD_discovery_cases
 Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
 82
 All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
 Range, 8-17 years (Mean, 10.06 2.92 yrs.)
 N/A
 108422
 1
 0
 1
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 137202
 1
 1
 2
 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
 72870
 3
 0
 3
 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
 100150
 7
 58
 65
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 43343
 2
 0
 2

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 beunders_13_DD/ID/ASD_discovery_controls
 Control cohort comprised of Ottawa Heart Institute (OHI) controls from Canada (n=1234), POPGEN controls from Germany (n=1123), SAGE controls from the United States (n=1287), Welcome Trust (WTCCC) controls (n=4783), HapMap Phase 3 controls (n=1056), Lowlands Consortium controls (n=981), and a combined adult controls set (HGDP, NINDS, and others; n=6239)
 16784
 Control
 NA
 NA
 417323
 NA
 NA
 NA
 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
 178916
 7
 0
 7
 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_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 143323
 0
 60
 60
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 467438
 0
 2
 2
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 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.
 
 18316
 2
 0
 2
 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)
 72870
 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.
 
 47553
 4
 46
 50
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 43343
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 beunders_13_DD/ID/ASD_discovery_cases
  NA
 aCGH, array SNP, solid phase hybridization
  Multiple platforms including Agilent 105K/180K/244K, custom Roche Nimblegen 135K, Affymetrix 2.7M/6.0, Illumina Omni 2.5M, SignatureChipOS v2.0, & BlueGnome CytoChip ISCA 60K
 
 
 None
 davis_09_ASD_discovery_cases
  NA
 Array SNP
  Affymetrix 250K Nsp, Affymetrix 250K Syt
 HMM
 CNAG v2.0
 qPCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 engwerda_18_ASD/DD/ID_discovery_cases
  European
 aCGH, array SNP, solid phase hybridization
  Affymetrix, Agilent, BlueGnome, CMA (OLIGO V6.4), Illumina, Oligo HD Scan
 
 
 None
 fitzgerald_14_ASD/DD/ID_discovery_cases
  UK and Ireland
 aCGH, WES
  Agilent 2x1M, Agilent Exome+
 
 Cnsolidate, CoNVex
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 leblond_12_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina Human 1M-Dup BeadChip
 QuantiSNP, PennCNV
 
 None
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 mosca_16_DCD_discovery_cases
  Canada
 Solid phase hybridization
  Illumina HumanOmni2.5-Quad BeadChip
 iPattern, PennCNV, QuantiSNP, CNVPartition
 
 None
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  beunders_13_DD/ID/ASD_discovery_controls
  NA
  aCGH, array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina 1M, Illumina 240K-650K, Agilent 105K/185K
 
 
 
  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_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  beunders_13_DD/ID/ASD_discovery_cases-case14
 9 yrs. 1 mos.
 F
 DD/ID
 Birth/neonatal history: low birth weight, no feeding difficulties. Neurodevelopmental disorders: sound sensitivity, hyperactivity/ADHD. Neurological disorders: cerebral palsy/spasticity. Dysmorphic features: deep/broad nasal bridge, large tongue. Skeletal disorders: tight heel cords, 5th finger clinodactyly. Congenital malformations: none reported. Growth parameters: normal stature & OFC. Family history: N/A.
 Developmental delay/intellectual disability
 38450874
 38868197
  417324
 GRCh38
 Duplication
 No
  davis_09_ASD_discovery_cases-AU027505
 NA
 NA
 Syndromic ASD
 Diagnosis: autism. Syndromic autism features: micropthalmia
 
 41048416
 41139668
  91252
 Unknown
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case1323_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 39866941
 40004142
  137202
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14191_3150
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 39887768
 39929742
  41975
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3612_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 39937862
 40037721
  99860
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5338_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 39920470
 40014728
  94259
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6024_7
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 40984870
 41021328
  36459
 GRCh38
 Deletion
 No
  engwerda_18_ASD/DD/ID_discovery_cases-caseId055
  NA NA
 N/A
 N/A
 ASD and developmental delay
 Case presents with ASD and developmental delay
 
 39948295
 40259976
  311682
 GRCh38
 Duplication
 No
  fitzgerald_14_ASD/DD/ID_discovery_cases-case000024
 N/A
 N/A
 N/A
 Clinical profile N/A; CNV from Supplementary Table S30
 N/A
 39957483
 39982916
  25434
 GRCh38
 Deletion
 No
  gai_11_ASD_replication_cases-AU027505
 
 
 Autism
 
 
 41002703
 41099005
  96303
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU027506
 
 
 Autism
 
 
 41002703
 41093584
  90882
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU082303
 
 
 Autism
 
 
 39866941
 40004142
  137202
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001006
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 39979140
 40669741
  690602
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002373
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 39036084
 39379226
  343143
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004626
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 39036084
 39379226
  343143
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11011.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745187
  15633
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11031.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11046.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11099.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745187
  15633
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11108.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11156.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745212
  15658
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11229.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745212
  15658
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11241.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11246.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11285.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11305.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38746179
  16625
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11336.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11346.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11367.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11404.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745212
  15658
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11509.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11511.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745212
  15658
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11552.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38731734
 38745212
  13479
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11642.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745187
  15633
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11653.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 38729555
 38746179
  16625
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11654.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745212
  15658
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11704.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 38729555
 38745187
  15633
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11835.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11843.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11863.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 38729555
 38745212
  15658
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11869.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745187
  15633
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11940.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11942.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745187
  15633
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12020.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745187
  15633
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12086.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 38729555
 38745212
  15658
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12215.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 38729555
 38745187
  15633
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12340.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745212
  15658
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12363.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745212
  15658
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12515.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12588.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38736019
  6465
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12622.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745187
  15633
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12645.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12657.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12687.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745187
  15633
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12869.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745212
  15658
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12885.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 38733476
 38745212
  11737
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13036.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745212
  15658
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13120.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745212
  15658
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13153.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38731734
 38745212
  13479
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13287.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745187
  15633
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13312.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13398.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745212
  15658
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13487.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13504.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13512.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745212
  15658
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13518.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13578.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38731734
 38745212
  13479
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13584.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745212
  15658
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13600.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38731734
 38745212
  13479
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13658.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 38729555
 38745187
  15633
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13678.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13691.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 38729555
 38745187
  15633
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13700.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 38729555
 38745187
  15633
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13744.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38746213
  16659
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13778.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 38729555
 38745187
  15633
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13800.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13805.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745187
  15633
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13821.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745187
  15633
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13832.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13860.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 38729555
 38745212
  15658
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13870.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745187
  15633
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13872.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38736019
  6465
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13928.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38736019
  6465
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13977.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745212
  15658
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14016.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14022.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14031.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14080.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745187
  15633
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14084.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745187
  15633
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14089.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38731734
 38745212
  13479
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14114.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14183.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745187
  15633
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14187.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745187
  15633
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14242.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38731734
 38735082
  3349
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14255.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 38731734
 38745212
  13479
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14267.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14278.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14279.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745212
  15658
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14323.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14369.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38745187
  15633
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14390.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38729555
 38733565
  4011
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14408.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 38729555
 38745187
  15633
 GRCh38
 Duplication
 Yes
  leblond_12_ASD_discovery_cases-AUGB038_3
 11.05 yrs.
 M
 Autism
 ADI-R domain scores (at 11 yrs.): social, 24; communication, 23; behavior, 6. Birth/neonatal history: normal pregnancy and delivery, at term; height 48 cm, weight 2500 g, HC 31 cm; Apgar scores of 7 and 10; no mention of signs of hypotonia in first year. Developmental milestones: apparently normal motor acquisition, severe speech delay; age of sitting, 6 months; age of walking, 18 months; age of first words, 48 months; age of first sentences, 78 months; no regression during development. Language and communication evaluation: expressive language limited to restrictive sentences, mainly dyssyntaxic. Neurological evaluation: normal neurological exam. Epilepsy/seizures: none. EEG: no significant epileptic event reported. Brain imaging: ND. Other exams: karyotype, fragile X, and metabolic screening normal. Other comorbid conditions: inguinal hernia, operated at 2 months of age; hypermetropia and astigmatism. Dysmorphic features: prominent chin, no other dysmorphic features. Family history: non-consanguineous parents, no relevant personal and familial history of psychiatric or medical illness.
 Composite score on Kaufman Assessment Battery for Children/K-ABC (age at evaluation, 11.05 years) of 40 (moderate ID)
 38724524
 38737389
  12866
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown130
  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)
 
 39981580
 40092427
  110848
 GRCh38
 Deletion
 No
  marshall_08_ASD_discovery_cases-SK0270-003
 NA
 M
 ASD
 RL/EL mild/moderate delay, mild speech unintelligibility, severe repetitive behavior
 IQ/LOF 67
 39853583
 39914509
  60927
 GRCh38
 Deletion
 Yes
  mosca_16_DCD_discovery_cases-case109303
 N/A
 M
 DCD/ADHD/RD
 Ancestry: European. Family history: maternal diagnosis unaffected; paternal diagnosis unaffected.
 
 40916747
 41025168
  108422
 GRCh38
 Deletion
 No
  pinto_10_ASD_discovery_cases-case1323_3
 NA
 M
 ASD
 NA
 NA
 39866941
 40004142
  137202
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5338_3
 NA
 M
 ASD
 NA
 NA
 39920470
 40014728
  94259
 GRCh38
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case146454L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 40269611
 40286786
  17176
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case60539L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 40636767
 40709636
  72870
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case83555L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 39941387
 39995387
  54001
 Unknown
 Deletion
 No
  sanders_11_ASD_discovery_cases-11031.p1
 13.8
 M
 Aspergers
 NA
 Full-scale IQ, 118; non-verbal IQ, 110; verbal IQ, 128
 38728835
 38737934
  9100
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11054.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 83; verbal IQ, 84
 38728835
 38737934
  9100
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11107.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 37; verbal IQ, 25
 38727987
 38737934
  9948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11108.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 114; verbal IQ, 85
 38728835
 38737934
  9100
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11115.p1
 13.8
 F
 Autism
 NA
 Full-scale IQ, 37; non-verbal IQ, 46; verbal IQ, 19
 38728835
 38737934
  9100
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11122.p1
 7.8
 F
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ 107
 38728835
 38737934
  9100
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11152.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 61; verbal IQ, 57
 38728835
 38737934
  9100
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11223.p1
 12.1
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 106; verbal IQ 102
 39946765
 39955644
  8880
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11229.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 68; verbal IQ, 56
 38728835
 38737934
  9100
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11245.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 107; verbal IQ, 117
 38727987
 38737934
  9948
 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
 38728835
 38737934
  9100
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11283.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 132; verbal IQ 84
 38728835
 38743953
  15119
 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
 38728835
 38743953
  15119
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11305.p1
 14.6
 M
 Autism
 NA
 Full-scale IQ, 41; non-verbal IQ, 35; verbal IQ, 60
 38728835
 38737934
  9100
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11307.p1
 16.1
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 84; verbal IQ, 104
 38728835
 38737934
  9100
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11336.p1
 10.4
 M
 Autism
 NA
 Full-scale IQ, 123; non-verbal IQ, 124; verbal IQ, 114
 38728835
 38737934
  9100
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11378.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 91; verbal IQ, 48
 40703918
 40724527
  20610
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11382.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 70; verbal IQ, 94
 38728835
 38737934
  9100
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11396.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 124; non-verbal IQ, 124; verbal IQ, 118
 38728835
 38737934
  9100
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11400.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 114; verbal IQ, 103
 38728835
 38743953
  15119
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11404.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 90; verbal IQ, 82
 38727987
 38737934
  9948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11455.p1
 7.6
 M
 ASD
 NA
 Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 69
 38727987
 38737934
  9948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11499.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 133; non-verbal IQ, 139; verbal IQ, 108
 38728835
 38737934
  9100
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11506.p1
 7
 F
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 92; verbal IQ, 82
 40921178
 41021328
  100151
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11509.p1
 16.8
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 83; verbal IQ, 80
 38728835
 38737934
  9100
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11511.p1
 10.6
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 129; verbal IQ, 113
 38728835
 38737934
  9100
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11552.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 92
 38727987
 38737934
  9948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11561.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 103; verbal IQ, 114
 38727987
 38737934
  9948
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11587.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 111; verbal IQ, 144
 38728835
 38737389
  8555
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11590.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 98
 38728835
 38737934
  9100
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11597.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 118; verbal IQ, 128
 38728835
 38737934
  9100
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11653.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 44; verbal IQ, 28
 38728835
 38743953
  15119
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11704.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
 38728835
 38742988
  14154
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11722.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 99; verbal IQ, 92
 38728835
 38743953
  15119
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11775.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 39; non-verbal IQ, 45; verbal IQ, 26
 40703918
 40722028
  18111
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11863.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 122; non-verbal IQ, 123; verbal IQ, 114
 38728835
 38743953
  15119
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11869.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 104; verbal IQ, 86
 38728835
 38743953
  15119
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11914.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 81; verbal IQ, 91
 38727987
 38743953
  15967
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11940.p1
 8.3
 F
 ASD
 NA
 Full-scale IQ, 114; non-verbal IQ, 109; verbal IQ, 121
 38728835
 38737934
  9100
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11942.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 50; non-verbal IQ, 44; verbal IQ, 62
 38733349
 38743953
  10605
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11962.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 99; verbal IQ, 75
 38728835
 38743953
  15119
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11989.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83
 38728835
 38743953
  15119
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12009.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
 38728835
 38743953
  15119
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12028.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 80
 38728835
 38743953
  15119
 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
 38727987
 38743953
  15967
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12076.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 98
 38727987
 38743953
  15967
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12173.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 92; verbal IQ, 93
 38728835
 38746672
  17838
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12227.p1
 12.4
 M
 Autism
 NA
 Full-scale IQ, 137; non-verbal IQ, 146; verbal IQ, 106
 38728835
 38743953
  15119
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12231.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 77; verbal IQ, 43
 38728835
 38743953
  15119
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12239.p1
 9.1
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 68; verbal IQ, 87
 38728835
 38743953
  15119
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12483.p1
 15.5
 M
 Autism
 NA
 Full-scale IQ, 95; non-verbal IQ, 92; verbal IQ, 102
 38728835
 38743953
  15119
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12548.p1
 11.9
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 113; verbal IQ, 76
 38728835
 38742988
  14154
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12555.p1
 16.9
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 113; verbal IQ, 126
 38728835
 38743953
  15119
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12572.p1
 14.9
 M
 Autism
 NA
 Full-scale IQ, 38; non-verbal IQ, 49; verbal IQ, 31
 40432917
 40439867
  6951
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12604.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 85; verbal IQ, 75
 38728835
 38746672
  17838
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12622.p1
 15.1
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 97; verbal IQ, 70
 38728835
 38746672
  17838
 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
 40677073
 40722978
  45906
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12653.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 69; verbal IQ, 97
 38728835
 38743953
  15119
 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
 40432917
 40437592
  4676
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12690.p1
 11.6
 M
 Autism
 NA
 Full-scale IQ, 110; non-verbal IQ, 112; verbal IQ, 103
 38727987
 38746672
  18686
 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
 40703918
 40722028
  18111
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12749.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 86; verbal IQ, 59
 38728835
 38746672
  17838
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12869.p1
 5.2
 F
 Autism
 NA
 Full-scale IQ, 31; non-verbal IQ, 40; verbal IQ, 22
 38728835
 38743953
  15119
 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
 38728835
 38743953
  15119
 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
 38724524
 38743953
  19430
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case57
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 38562366
 38605708
  43343
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case58
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 40347129
 40348955
  1827
 GRCh38
 Deletion
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-control110036011773_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40105967
  40284883
  178917
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036020154_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  41118011
  41278333
  160323
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036021749_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40979612
  41021328
  41717
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB431282_1007873513
  N/A
  N/A
  Control
  No previous psychiatric history
 
  41228063
  41271360
  43298
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB812440_1007854301
  N/A
  N/A
  Control
  No previous psychiatric history
 
  41011504
  41046306
  34803
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900072_900072
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40299988
  40417965
  117978
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902831_902831
  N/A
  N/A
  Control
  No previous psychiatric history
 
  41362974
  41458836
  95863
  GRCh38
  Deletion
  No
  krumm_15_ASD_discovery_controls-control11008.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745212
  15658
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11099.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745187
  15633
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11241.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38733565
  4011
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11285.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38733565
  4011
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11325.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745212
  15658
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11393.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38733565
  4011
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11446.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745187
  15633
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11485.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38746213
  16659
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11511.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38733476
  38745212
  11737
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11642.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38746179
  16625
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11654.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745212
  15658
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11673.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745212
  15658
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11722.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745212
  15658
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11828.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38733565
  4011
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11872.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745212
  15658
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11962.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745187
  15633
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12020.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745187
  15633
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12044.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745187
  15633
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12228.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38689803
  38745212
  55410
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12399.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745212
  15658
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12515.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38733565
  4011
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12522.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38733565
  4011
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12573.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745212
  15658
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12622.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745187
  15633
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12645.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38733565
  4011
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12687.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745187
  15633
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12799.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38733565
  4011
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12894.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38733565
  4011
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13010.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38689803
  38745212
  55410
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13047.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38731734
  38745212
  13479
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13066.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38689803
  38745212
  55410
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13071.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38733565
  4011
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13120.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745212
  15658
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13504.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745187
  15633
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13512.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745212
  15658
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13561.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745187
  15633
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13578.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745212
  15658
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13584.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745212
  15658
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13653.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38731734
  38745212
  13479
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13744.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745212
  15658
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13800.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38733565
  4011
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13832.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38733565
  4011
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13852.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745187
  15633
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13870.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745187
  15633
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13871.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38602856
  38746179
  143324
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13913.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745212
  15658
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13922.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38733565
  4011
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13924.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745187
  15633
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13966.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38733565
  4011
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14042.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745187
  15633
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14080.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745187
  15633
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14084.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745187
  15633
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14160.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38733476
  38745212
  11737
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14187.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38689812
  38745187
  55376
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14231.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38735082
  5528
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14309.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38736019
  6465
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14333.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38733565
  4011
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14369.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38745187
  15633
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14375.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38733565
  4011
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14393.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38729555
  38733565
  4011
  GRCh38
  Duplication
  Yes
  levy_11_ASD_discovery_controls-11225.s1
  NA
  F
  Control
  NA
  NA
  39703005
  39727032
  24028
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-11244.s1
  NA
  M
  Control
  NA
  NA
  39129547
  39596985
  467439
  GRCh38
  Duplication
  No
  nord_11_ASD_discovery_controls-04C27992
 
 
  Control
 
 
  40270540
  40286913
  16374
  Unknown
  Deletion
 
  nord_11_ASD_discovery_controls-04C28249
 
 
  Control
 
 
  40270540
  40288855
  18316
  Unknown
  Deletion
 
  sanders_11_ASD_discovery_controls-11008.s1
  26.3
  M
  Control (matched sibling)
  NA
  NA
  38728835
  38737934
  9100
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11011.s1
  5.9
  M
  Control (matched sibling)
  NA
  NA
  38728835
  38737934
  9100
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11031.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  38728835
  38737934
  9100
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11046.s1
  5.7
  M
  Control (matched sibling)
  NA
  NA
  38728835
  38737934
  9100
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11088.s1
  14.5
  F
  Control (matched sibling)
  NA
  NA
  38728835
  38737934
  9100
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11107.s1
  3.7
  M
  Control (matched sibling)
  NA
  NA
  38728835
  38737934
  9100
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11108.s1
  10.3
  M
  Control (matched sibling)
  NA
  NA
  38728835
  38737934
  9100
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11114.s1
  11.6
  F
  Control (matched sibling)
  NA
  NA
  38728835
  38737934
  9100
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11115.s1
  15.8
  F
  Control (matched sibling)
  NA
  NA
  38728835
  38737934
  9100
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11124.s1
  13.3
  M
  Control (matched sibling)
  NA
  NA
  38728835
  38737934
  9100
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11152.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  38728835
  38737934
  9100
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11200.s1
  9.5
  F
  Control (matched sibling)
  NA
  NA
  38728835
  38737934
  9100
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11203.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  38728835
  38737934
  9100
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11241.s1
  11.9
  M
  Control (matched sibling)
  NA
  NA
  38727987
  38743953
  15967
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11245.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  38728835
  38737934
  9100
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11262.s1
  4.8
  M
  Control (matched sibling)
  NA
  NA
  38728835
  38737934
  9100
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11307.s1
  13.1
  M
  Control (matched sibling)
  NA
  NA
  38728835
  38737934
  9100
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11323.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  38727987
  38737934
  9948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11325.s1
  12.3
  M
  Control (matched sibling)
  NA
  NA
  38728835
  38737934
  9100
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11346.s1
  12.9
  M
  Control (matched sibling)
  NA
  NA
  38727987
  38737934
  9948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11396.s1
  6.6
  M
  Control (matched sibling)
  NA
  NA
  38727987
  38737934
  9948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11400.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  38728835
  38743953
  15119
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11412.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  38727987
  38737934
  9948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11413.s1
  13.5
  M
  Control (matched sibling)
  NA
  NA
  38728835
  38737934
  9100
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11509.s1
  20.3
  M
  Control (matched sibling)
  NA
  NA
  38728835
  38737934
  9100
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11511.s1
  9
  M
  Control (matched sibling)
  NA
  NA
  38728835
  38737934
  9100
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11536.s1
  4.2
  F
  Control (matched sibling)
  NA
  NA
  39280980
  39302995
  22016
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11587.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  38728835
  38737934
  9100
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11597.s1
  9
  M
  Control (matched sibling)
  NA
  NA
  38727987
  38737934
  9948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11653.s1
  5
  M
  Control (matched sibling)
  NA
  NA
  38728835
  38743953
  15119
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11722.s1
  9.8
  M
  Control (matched sibling)
  NA
  NA
  38727987
  38743953
  15967
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11775.s1
  12.7
  F
  Control (matched sibling)
  NA
  NA
  40703918
  40722028
  18111
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11940.s1
  6.5
  M
  Control (matched sibling)
  NA
  NA
  38728835
  38742988
  14154
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11942.s1
  14.6
  M
  Control (matched sibling)
  NA
  NA
  38733349
  38746672
  13324
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11962.s1
  7.8
  M
  Control (matched sibling)
  NA
  NA
  38728835
  38746672
  17838
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12020.s1
  13.8
  M
  Control (matched sibling)
  NA
  NA
  38727987
  38743953
  15967
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12052.s1
  5.4
  F
  Control (matched sibling)
  NA
  NA
  39981525
  40029078
  47554
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12076.s1
  6.2
  M
  Control (matched sibling)
  NA
  NA
  38728835
  38743953
  15119
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12228.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  38728835
  38743953
  15119
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12372.s1
  13.5
  F
  Control (matched sibling)
  NA
  NA
  38728835
  38743953
  15119
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12555.s1
  18.9
  F
  Control (matched sibling)
  NA
  NA
  38727987
  38743953
  15967
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12605.s1
  13.3
  M
  Control (matched sibling)
  NA
  NA
  38728835
  38742988
  14154
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12628.s1
  13.6
  F
  Control (matched sibling)
  NA
  NA
  40677073
  40722978
  45906
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12637.s1
  5
  M
  Control (matched sibling)
  NA
  NA
  38728835
  38743953
  15119
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12653.s1
  8.5
  F
  Control (matched sibling)
  NA
  NA
  38727987
  38743953
  15967
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12690.s1
  10.6
  M
  Control (matched sibling)
  NA
  NA
  38728835
  38743953
  15119
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12723.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  40703918
  40722028
  18111
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12780.s1
  5.9
  M
  Control (matched sibling)
  NA
  NA
  38728835
  38743953
  15119
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12788.s1
  11.1
  F
  Control (matched sibling)
  NA
  NA
  40425962
  40437592
  11631
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13120.s1
  6.2
  M
  Control (matched sibling)
  NA
  NA
  38728835
  38743953
  15119
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 beunders_13_DD/ID/ASD_discovery_cases-case14
 
 
 Maternal
 Unknown
 Unknown
 RPLP0P6,ASS1P2,HNRNPLL,SRSF7,GEMIN6,TTC39DP,DHX57,GALM
 
 davis_09_ASD_discovery_cases-AU027505
 qPCR
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 engchuan_15_ASD_discovery_cases-case1323_3
 
 
 Unknown
 
 
 SLC8A1-AS1
 
 engchuan_15_ASD_discovery_cases-case14191_3150
 
 
 Unknown
 
 
 SLC8A1-AS1
 
 engchuan_15_ASD_discovery_cases-case3612_3
 
 
 Unknown
 
 
 SLC8A1-AS1
 
 engchuan_15_ASD_discovery_cases-case5338_3
 
 
 Unknown
 
 
 SLC8A1-AS1
 
 engchuan_15_ASD_discovery_cases-case6024_7
 
 
 Unknown
 
 
 
 
 engwerda_18_ASD/DD/ID_discovery_cases-caseId055
 No validation reported
 
 Unknown
 
 
 SLC8A1,SLC8A1-AS1
 
 fitzgerald_14_ASD/DD/ID_discovery_cases-case000024
 
 
 De novo
 Unknown
 Unknown
 SLC8A1-AS1
 
 gai_11_ASD_replication_cases-AU027505
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU027506
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU082303
 
 
 Inherited
 
 
 SLC8A1-AS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001006
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SLC8A1,SLC8A1-AS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002373
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 RNU6-198P,HSPE1P13,SOS1,CDKL4,MAP4K3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004626
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RNU6-198P,HSPE1P13,SOS1,CDKL4,MAP4K3
 
 krumm_15_ASD_discovery_cases-case11011.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case11031.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GALM
 
 krumm_15_ASD_discovery_cases-case11046.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 GALM
 
 krumm_15_ASD_discovery_cases-case11099.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case11108.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 GALM
 
 krumm_15_ASD_discovery_cases-case11156.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case11229.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case11241.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GALM
 
 krumm_15_ASD_discovery_cases-case11246.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 GALM
 
 krumm_15_ASD_discovery_cases-case11285.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GALM
 
 krumm_15_ASD_discovery_cases-case11305.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case11336.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 GALM
 
 krumm_15_ASD_discovery_cases-case11346.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 GALM
 
 krumm_15_ASD_discovery_cases-case11367.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 GALM
 
 krumm_15_ASD_discovery_cases-case11404.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case11509.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 GALM
 
 krumm_15_ASD_discovery_cases-case11511.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case11552.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case11642.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case11653.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case11654.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case11704.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case11835.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 GALM
 
 krumm_15_ASD_discovery_cases-case11843.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 GALM
 
 krumm_15_ASD_discovery_cases-case11863.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case11869.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case11940.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 GALM
 
 krumm_15_ASD_discovery_cases-case11942.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case12020.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case12086.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case12215.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case12340.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case12363.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case12515.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GALM
 
 krumm_15_ASD_discovery_cases-case12588.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 GALM
 
 krumm_15_ASD_discovery_cases-case12622.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case12645.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GALM
 
 krumm_15_ASD_discovery_cases-case12657.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 GALM
 
 krumm_15_ASD_discovery_cases-case12687.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case12869.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case12885.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case13036.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case13120.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case13153.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case13287.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case13312.p1
 1M-Duov3
 
 De novo
 Simplex
 Segregated
 GALM
 
 krumm_15_ASD_discovery_cases-case13398.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case13487.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 GALM
 
 krumm_15_ASD_discovery_cases-case13504.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 GALM
 
 krumm_15_ASD_discovery_cases-case13512.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case13518.p1
 1M-Duov3
 
 De novo
 Simplex
 Segregated
 GALM
 
 krumm_15_ASD_discovery_cases-case13578.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case13584.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case13600.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case13658.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case13678.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Segregated
 GALM
 
 krumm_15_ASD_discovery_cases-case13691.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case13700.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case13744.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case13778.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case13800.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GALM
 
 krumm_15_ASD_discovery_cases-case13805.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case13821.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case13832.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GALM
 
 krumm_15_ASD_discovery_cases-case13860.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case13870.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case13872.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 GALM
 
 krumm_15_ASD_discovery_cases-case13928.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 GALM
 
 krumm_15_ASD_discovery_cases-case13977.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case14016.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 GALM
 
 krumm_15_ASD_discovery_cases-case14022.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 GALM
 
 krumm_15_ASD_discovery_cases-case14031.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Not segregated (CNV in unaffected sibling)
 GALM
 
 krumm_15_ASD_discovery_cases-case14080.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case14084.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case14089.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case14114.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Segregated
 GALM
 
 krumm_15_ASD_discovery_cases-case14183.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case14187.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case14242.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 GALM
 
 krumm_15_ASD_discovery_cases-case14255.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case14267.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Segregated
 GALM
 
 krumm_15_ASD_discovery_cases-case14278.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 GALM
 
 krumm_15_ASD_discovery_cases-case14279.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case14323.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Segregated
 GALM
 
 krumm_15_ASD_discovery_cases-case14369.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SRSF7,GALM
 
 krumm_15_ASD_discovery_cases-case14390.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 GALM
 
 krumm_15_ASD_discovery_cases-case14408.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SRSF7,GALM
 
 leblond_12_ASD_discovery_cases-AUGB038_3
 
 
 Maternal
 Simplex
 
 GALM
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown130
 
 
 Paternal
 Unknown
 Unknown
 SLC8A1-AS1
 
 marshall_08_ASD_discovery_cases-SK0270-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 SLC8A1-AS1
 
 mosca_16_DCD_discovery_cases-case109303
 
 
 Unknown
 Simplex
 Unknown
 
 
 pinto_10_ASD_discovery_cases-case1323_3
 Illumina550;Affy5.0
 
 maternal
 NA
 NA
 SLC8A1-AS1
 
 pinto_10_ASD_discovery_cases-case5338_3
 Agilent1M
 
 paternal
 NA
 NA
 SLC8A1-AS1
 
 prasad_12_ASD_discovery_cases-case146454L
 
 
 Unknown
 Unknown
 Unknown
 SLC8A1
 
 prasad_12_ASD_discovery_cases-case60539L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case83555L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11031.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GALM
 
 sanders_11_ASD_discovery_cases-11054.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GALM
 
 sanders_11_ASD_discovery_cases-11107.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GALM
 
 sanders_11_ASD_discovery_cases-11108.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GALM
 
 sanders_11_ASD_discovery_cases-11115.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GALM
 
 sanders_11_ASD_discovery_cases-11122.p1
 
 
 Both parents
 Simplex (trio)
 NA
 GALM
 
 sanders_11_ASD_discovery_cases-11152.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GALM
 
 sanders_11_ASD_discovery_cases-11223.p1
 
 
 Paternal
 Simplex (trio)
 NA
 SLC8A1-AS1
 
 sanders_11_ASD_discovery_cases-11229.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GALM
 
 sanders_11_ASD_discovery_cases-11245.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GALM
 
 sanders_11_ASD_discovery_cases-11246.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GALM
 
 sanders_11_ASD_discovery_cases-11283.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 SRSF7,GALM
 
 sanders_11_ASD_discovery_cases-11297.p1
 
 
 Both parents
 Simplex (trio)
 NA
 SRSF7,GALM
 
 sanders_11_ASD_discovery_cases-11305.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GALM
 
 sanders_11_ASD_discovery_cases-11307.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GALM
 
 sanders_11_ASD_discovery_cases-11336.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GALM
 
 sanders_11_ASD_discovery_cases-11378.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11382.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GALM
 
 sanders_11_ASD_discovery_cases-11396.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GALM
 
 sanders_11_ASD_discovery_cases-11400.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SRSF7,GALM
 
 sanders_11_ASD_discovery_cases-11404.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GALM
 
 sanders_11_ASD_discovery_cases-11455.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GALM
 
 sanders_11_ASD_discovery_cases-11499.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GALM
 
 sanders_11_ASD_discovery_cases-11506.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11509.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 GALM
 
 sanders_11_ASD_discovery_cases-11511.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GALM
 
 sanders_11_ASD_discovery_cases-11552.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GALM
 
 sanders_11_ASD_discovery_cases-11561.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GALM
 
 sanders_11_ASD_discovery_cases-11587.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GALM
 
 sanders_11_ASD_discovery_cases-11590.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GALM
 
 sanders_11_ASD_discovery_cases-11597.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 GALM
 
 sanders_11_ASD_discovery_cases-11653.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SRSF7,GALM
 
 sanders_11_ASD_discovery_cases-11704.p1
 
 
 Maternal
 Simplex (trio)
 NA
 GALM
 
 sanders_11_ASD_discovery_cases-11722.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SRSF7,GALM
 
 sanders_11_ASD_discovery_cases-11775.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11863.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SRSF7,GALM
 
 sanders_11_ASD_discovery_cases-11869.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SRSF7,GALM
 
 sanders_11_ASD_discovery_cases-11914.p1
 
 
 Paternal
 Simplex (trio)
 NA
 SRSF7,GALM
 
 sanders_11_ASD_discovery_cases-11940.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 GALM
 
 sanders_11_ASD_discovery_cases-11942.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SRSF7,GALM
 
 sanders_11_ASD_discovery_cases-11962.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SRSF7,GALM
 
 sanders_11_ASD_discovery_cases-11989.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SRSF7,GALM
 
 sanders_11_ASD_discovery_cases-12009.p1
 
 
 Maternal
 Simplex (trio)
 NA
 SRSF7,GALM
 
 sanders_11_ASD_discovery_cases-12028.p1
 
 
 Paternal
 Simplex (trio)
 NA
 SRSF7,GALM
 
 sanders_11_ASD_discovery_cases-12046.p1
 
 
 Maternal
 Simplex (trio)
 NA
 SRSF7,GALM
 
 sanders_11_ASD_discovery_cases-12076.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 SRSF7,GALM
 
 sanders_11_ASD_discovery_cases-12173.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SRSF7,GALM
 
 sanders_11_ASD_discovery_cases-12227.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SRSF7,GALM
 
 sanders_11_ASD_discovery_cases-12231.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SRSF7,GALM
 
 sanders_11_ASD_discovery_cases-12239.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SRSF7,GALM
 
 sanders_11_ASD_discovery_cases-12483.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SRSF7,GALM
 
 sanders_11_ASD_discovery_cases-12548.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 GALM
 
 sanders_11_ASD_discovery_cases-12555.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SRSF7,GALM
 
 sanders_11_ASD_discovery_cases-12572.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 SLC8A1
 
 sanders_11_ASD_discovery_cases-12604.p1
 
 
 Paternal
 Simplex (trio)
 NA
 SRSF7,GALM
 
 sanders_11_ASD_discovery_cases-12622.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 SRSF7,GALM
 
 sanders_11_ASD_discovery_cases-12628.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12653.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SRSF7,GALM
 
 sanders_11_ASD_discovery_cases-12664.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 SLC8A1
 
 sanders_11_ASD_discovery_cases-12690.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SRSF7,GALM
 
 sanders_11_ASD_discovery_cases-12723.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12749.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 SRSF7,GALM
 
 sanders_11_ASD_discovery_cases-12869.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 SRSF7,GALM
 
 sanders_11_ASD_discovery_cases-13244.p1
 
 
 Maternal
 Simplex (trio)
 NA
 SRSF7,GALM
 
 sanders_11_ASD_discovery_cases-13367.p1
 
 
 Paternal
 Simplex (trio)
 NA
 SRSF7,GALM
 
 yin_16_ASD_discovery_cases-case57
 
 
 Unknown
 Unknown
 Unknown
 HNRNPLL
 
 yin_16_ASD_discovery_cases-case58
 
 
 Unknown
 Unknown
 Unknown
 SLC8A1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036011773_
 
 
  Unknown
 
 
  SLC8A1,SLC8A1-AS1
 
engchuan_15_ASD_discovery_controls-control110036020154_
 
 
  Unknown
 
 
  HNRNPA1P57
 
engchuan_15_ASD_discovery_controls-control110036021749_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB431282_1007873513
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB812440_1007854301
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900072_900072
 
 
  Unknown
 
 
  SLC8A1
 
engchuan_15_ASD_discovery_controls-controlHABC_902831_902831
 
 
  Unknown
 
 
 
 
krumm_15_ASD_discovery_controls-control11008.s1
  Illumina 1M
 
  Paternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control11099.s1
  Illumina 1M
 
  Maternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control11241.s1
  Illumina 1MDuo
 
  Paternal
 
 
  GALM
 
krumm_15_ASD_discovery_controls-control11285.s1
  Illumina 1M
 
  Maternal
 
 
  GALM
 
krumm_15_ASD_discovery_controls-control11325.s1
  Illumina 1M
 
  Maternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control11393.s1
  Illumina 1MDuo
 
  Maternal
 
 
  GALM
 
krumm_15_ASD_discovery_controls-control11446.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control11485.s1
  Illumina 1M
 
  Maternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control11511.s1
  Illumina 1M
 
  Maternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control11642.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control11654.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control11673.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control11722.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control11828.s1
  Illumina 1MDuo
 
  Maternal
 
 
  GALM
 
krumm_15_ASD_discovery_controls-control11872.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control11962.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control12020.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control12044.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control12228.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control12399.s1
  1M-Duov3
 
  Paternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control12515.s1
  Illumina 1MDuo
 
  Maternal
 
 
  GALM
 
krumm_15_ASD_discovery_controls-control12522.s1
  Omni2.5-4v1
 
  Maternal
 
 
  GALM
 
krumm_15_ASD_discovery_controls-control12573.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control12622.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control12645.s1
  Illumina 1MDuo
 
  Paternal
 
 
  GALM
 
krumm_15_ASD_discovery_controls-control12687.s1
  1M-Duov3
 
  Maternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control12799.s1
  Illumina 1MDuo
 
  Maternal
 
 
  GALM
 
krumm_15_ASD_discovery_controls-control12894.s1
  Illumina 1MDuo
 
  Maternal
 
 
  GALM
 
krumm_15_ASD_discovery_controls-control13010.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control13047.s1
  Omni2.5-4v1
 
  Maternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control13066.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control13071.s1
  1M-Duov3
 
  De novo
 
 
  GALM
 
krumm_15_ASD_discovery_controls-control13120.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control13504.s1
  1M-Duov3
 
  Paternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control13512.s1
  1M-Duov3
 
  Maternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control13561.s1
  1M-Duov3
 
  Paternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control13578.s1
  1M-Duov3
 
  Maternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control13584.s1
  1M-Duov3
 
  Maternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control13653.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control13744.s1
  Omni2.5-4v1
 
  Maternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control13800.s1
  Omni2.5-4v1
 
  Maternal
 
 
  GALM
 
krumm_15_ASD_discovery_controls-control13832.s1
  Omni2.5-4v1
 
  Maternal
 
 
  GALM
 
krumm_15_ASD_discovery_controls-control13852.s1
  Omni2.5-4v1
 
  Maternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control13870.s1
  Omni2.5-4v1
 
  Maternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control13871.s1
  Omni2.5-4v1
 
  De novo
 
 
  HNRNPLL,SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control13913.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control13922.s1
  Omni2.5-4v1
 
  Paternal
 
 
  GALM
 
krumm_15_ASD_discovery_controls-control13924.s1
  Omni2.5-4v1
 
  Maternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control13966.s1
  Omni2.5-4v1
 
  Maternal
 
 
  GALM
 
krumm_15_ASD_discovery_controls-control14042.s1
  Omni2.5-4v1
 
  Maternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control14080.s1
  Omni2.5-4v1
 
  Maternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control14084.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control14160.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control14187.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control14231.s1
  Omni2.5-4v1
 
  Paternal
 
 
  GALM
 
krumm_15_ASD_discovery_controls-control14309.s1
  Omni2.5-4v1
 
  De novo
 
 
  GALM
 
krumm_15_ASD_discovery_controls-control14333.s1
  Omni2.5-4v1
 
  Maternal
 
 
  GALM
 
krumm_15_ASD_discovery_controls-control14369.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SRSF7,GALM
 
krumm_15_ASD_discovery_controls-control14375.s1
  Omni2.5-4v1
 
  De novo
 
 
  GALM
 
krumm_15_ASD_discovery_controls-control14393.s1
  Omni2.5-4v1
 
  Maternal
 
 
  GALM
 
levy_11_ASD_discovery_controls-11225.s1
 
 
  Maternal
  Simplex
  NA
  TMEM178A
 
levy_11_ASD_discovery_controls-11244.s1
 
 
  Paternal
  Simplex
  NA
  CDKL4,MAP4K3
 
nord_11_ASD_discovery_controls-04C27992
 
 
 
 
 
  SLC8A1
 
nord_11_ASD_discovery_controls-04C28249
 
 
 
 
 
  SLC8A1
 
sanders_11_ASD_discovery_controls-11008.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GALM
 
sanders_11_ASD_discovery_controls-11011.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GALM
 
sanders_11_ASD_discovery_controls-11031.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GALM
 
sanders_11_ASD_discovery_controls-11046.s1
 
 
  Both parents
  Simplex (quad)
  NA
  GALM
 
sanders_11_ASD_discovery_controls-11088.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GALM
 
sanders_11_ASD_discovery_controls-11107.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GALM
 
sanders_11_ASD_discovery_controls-11108.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GALM
 
sanders_11_ASD_discovery_controls-11114.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GALM
 
sanders_11_ASD_discovery_controls-11115.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GALM
 
sanders_11_ASD_discovery_controls-11124.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GALM
 
sanders_11_ASD_discovery_controls-11152.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GALM
 
sanders_11_ASD_discovery_controls-11200.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GALM
 
sanders_11_ASD_discovery_controls-11203.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GALM
 
sanders_11_ASD_discovery_controls-11241.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SRSF7,GALM
 
sanders_11_ASD_discovery_controls-11245.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GALM
 
sanders_11_ASD_discovery_controls-11262.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GALM
 
sanders_11_ASD_discovery_controls-11307.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GALM
 
sanders_11_ASD_discovery_controls-11323.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GALM
 
sanders_11_ASD_discovery_controls-11325.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GALM
 
sanders_11_ASD_discovery_controls-11346.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GALM
 
sanders_11_ASD_discovery_controls-11396.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GALM
 
sanders_11_ASD_discovery_controls-11400.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SRSF7,GALM
 
sanders_11_ASD_discovery_controls-11412.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GALM
 
sanders_11_ASD_discovery_controls-11413.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GALM
 
sanders_11_ASD_discovery_controls-11509.s1
 
 
  Both parents
  Simplex (quad)
  NA
  GALM
 
sanders_11_ASD_discovery_controls-11511.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GALM
 
sanders_11_ASD_discovery_controls-11536.s1
 
 
  Unknown
  Simplex (quad)
  NA
  MAP4K3
 
sanders_11_ASD_discovery_controls-11587.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GALM
 
sanders_11_ASD_discovery_controls-11597.s1
 
 
  Both parents
  Simplex (quad)
  NA
  GALM
 
sanders_11_ASD_discovery_controls-11653.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SRSF7,GALM
 
sanders_11_ASD_discovery_controls-11722.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SRSF7,GALM
 
sanders_11_ASD_discovery_controls-11775.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11940.s1
 
 
  Both parents
  Simplex (quad)
  NA
  GALM
 
sanders_11_ASD_discovery_controls-11942.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SRSF7,GALM
 
sanders_11_ASD_discovery_controls-11962.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SRSF7,GALM
 
sanders_11_ASD_discovery_controls-12020.s1
 
 
  Both parents
  Simplex (quad)
  NA
  SRSF7,GALM
 
sanders_11_ASD_discovery_controls-12052.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SLC8A1-AS1
 
sanders_11_ASD_discovery_controls-12076.s1
 
 
  Both parents
  Simplex (quad)
  NA
  SRSF7,GALM
 
sanders_11_ASD_discovery_controls-12228.s1
 
 
  Both parents
  Simplex (quad)
  NA
  SRSF7,GALM
 
sanders_11_ASD_discovery_controls-12372.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SRSF7,GALM
 
sanders_11_ASD_discovery_controls-12555.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SRSF7,GALM
 
sanders_11_ASD_discovery_controls-12605.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GALM
 
sanders_11_ASD_discovery_controls-12628.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12637.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SRSF7,GALM
 
sanders_11_ASD_discovery_controls-12653.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SRSF7,GALM
 
sanders_11_ASD_discovery_controls-12690.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SRSF7,GALM
 
sanders_11_ASD_discovery_controls-12723.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12780.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SRSF7,GALM
 
sanders_11_ASD_discovery_controls-12788.s1
 
 
  Unknown
  Simplex (quad)
  NA
  SLC8A1
 
sanders_11_ASD_discovery_controls-13120.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SRSF7,GALM
 

No Animal Model Data Available
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