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Xq27.3CNV Type: Deletion-Duplication


Largest CNV size: 339727 bp

Statistics Box:
Number of Reports: 12



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Duplication
Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in...
Deletion
Excess of rare, inherited truncating mutations in autism.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 battaglia_13_DD/ID/ASD_discovery_cases
 Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
 349
 34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
 Range, 5 mos.-19 yrs.
 63.9% Male
 700000
 0
 1
 1
 chong_14_DD/ID/ASD/MCA_discovery_cases
 Patients referred to clinical genetics service and recruited for CMA application study
 105
 Developmental delay/intellectual disability (DD/ID), autism (ASD), and/or multiple congenital anomalies (MCA)
 N/A
 N/A
 11000
 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
 341338
 1
 5
 6
 gazzellone_14_ASD_discovery_cases
 ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
 104
 Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 Mean age at enrollment, 4.31 1.80 yrs.
 87.5% Male
 96749
 0
 1
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 693177
 1
 2
 3
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 95658
 0
 1
 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
 
 
 339727
 1
 1
 2
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 160035
 1
 0
 1
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases
 Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
 6
 Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
 Range, 8-19 yrs.
 83.33% Male
 32548
 1
 0
 1
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 368601
 1
 5
 6
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 133840
 1
 0
 1
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 117120
 40
 3
 43

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 503345
 5
 5
 10
 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
 71317
 1
 1
 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.
 
 41405
 1
 0
 1
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 368601
 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.
 
 269160
 28
 5
 33

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 battaglia_13_DD/ID/ASD_discovery_cases
  Italy
 aCGH, array SNP
  BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
 
 
 FISH, qPCR
 chong_14_DD/ID/ASD/MCA_discovery_cases
  Chinese
 aCGH
  High-resolution 180K oligoarray
 
 
 aCGH (NimbleGen)
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 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)
 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
 nord_11_ASD_discovery_cases
  29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
 aCGH
  NimbleGen HD2
 Sliding-window algorithm, ~10 kb minumum size threshold
 
 None
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases
  Italy
 aCGH
  Agilent SurePrint G3 4x180K
 ADM-2
 Agilent Cytogenomic Software v2.7
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 None (not tested or failure to confirm by qPCR)
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  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
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  battaglia_13_DD/ID/ASD_discovery_cases-case13
 6 yrs. 4 mos.
 M
 PDD-NOS
 Autism: yes (PDD-NOS). Epilepsy: no. Dysmorphic features: yes.
 N/A (not testable)
 145088637
 145777624
  688988
 GRCh38
 Duplication
 Yes
  chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH2159
 N/A
 F
 Developmental delay
 Severe developmental delay, hypotonia, tuneal ataxia & dymentia, retractory seisure
 Severe developmental delay
 147909699
 147920743
  11045
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case13003_43
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 144542816
 144800570
  257755
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4203_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 145014177
 145104801
  90625
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5108_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 144477583
 144564912
  87330
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5277_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 144263494
 144626458
  362965
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5305_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 144477583
 144564912
  87330
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6266_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 143979639
 144135840
  156202
 GRCh38
 Deletion
 No
  gazzellone_14_ASD_discovery_cases-case550-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 144570371
 144667120
  96750
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000082
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 144251509
 144887684
  636176
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001113
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 147933767
 147951004
  17238
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004316
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 143118423
 143816291
  697869
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12803.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 147189395
 147285053
  95659
 GRCh38
 Duplication
 Yes
  marshall_08_ASD_discovery_cases-SK0234-003
 NA
 M
 ASD
 NA
 NA
 143752385
 143873390
  121006
 GRCh38
 Deletion
 Yes
  marshall_08_ASD_discovery_cases-SK0320-003
 NA
 M
 ASD
 NA
 NA
 144250928
 144612287
  361360
 GRCh38
 Duplication
 Yes
  nord_11_ASD_discovery_cases-312-1
 
 
 ASD
 
 
 144131667
 144291701
  160035
 Unknown
 Deletion
 No
  picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient1
 N/A
 M
 ASD and intellectual disability
 Developmental milestones: mild delay in walking (18 months); language regression after 2.5 years of age. Language and communication evaluation: non-verbal autism. Behavioral/psychiatric evaluation: non-verbal autism; OCD; irritability; mood disorder; stereotypies. Family history: father affected by mood disorder, anxiety, and chronic alcoholism; father's cousin affected by language delay; mother with autoimmune connective tissue disease.
 Severe intellectual disability
 145828685
 145861233
  32549
 GRCh38
 Deletion
 No
  prasad_12_ASD_discovery_cases-case130293
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 146553209
 146586370
  33162
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case45554
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 143377767
 143459927
  82161
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case68785
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 144884645
 144890093
  5449
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case79449
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 143174866
 143543466
  368601
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case93773L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 143377767
 143459927
  82161
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-caseMM0234-5
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 143225453
 143241158
  15706
 Unknown
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1183-0
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: yes.
 Developmental delay: yes. Intellectual disability: yes.
 145250160
 145384001
  133842
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11047.p1
 10.4
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 74; verbal IQ, 36
 144642171
 144676369
  34199
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11117.p1
 9.3
 F
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 119; verbal IQ, 119
 145082821
 145092718
  9898
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11227.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 93; verbal IQ, 63
 146827296
 146859007
  31712
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11495.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 113; verbal IQ, 120
 146827296
 146859007
  31712
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11543.p1
 16.9
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ, 31
 144549620
 144556237
  6618
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11768.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 89
 144549620
 144556237
  6618
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11857.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 101; verbal IQ, 96
 144549620
 144556237
  6618
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11859.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 54; non-verbal IQ, 49; verbal IQ, 47
 144545104
 144556237
  11134
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11872.p1
 7.8
 F
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 65; verbal IQ, 67
 146159191
 146179603
  20413
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11888.p1
 4
 M
 ASD
 NA
 Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 75
 144549620
 144556237
  6618
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11990.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 81; verbal IQ, 78
 147098591
 147098954
  364
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12118.p1
 12.6
 F
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 74; verbal IQ, 102
 145055758
 145081335
  25578
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12119.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 41
 147098591
 147098954
  364
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12121.p1
 8.5
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 134; verbal IQ, 110
 144549620
 144556237
  6618
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12149.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 103
 144549620
 144556237
  6618
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12150.p1
 8.7
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 95; verbal IQ, 133
 144545104
 144556237
  11134
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12158.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 100
 144549620
 144556237
  6618
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12162.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 68; verbal IQ, 75
 147098591
 147098954
  364
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12233.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 99
 144549620
 144556237
  6618
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12359.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
 145362679
 145369593
  6915
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12372.p1
 15.7
 F
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 74; verbal IQ, 80
 146159191
 146181484
  22294
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12396.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
 144549620
 144556237
  6618
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12415.p1
 12.8
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 89
 144549620
 144556237
  6618
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12426.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 86; verbal IQ, 81
 144549620
 144556237
  6618
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12460.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 63
 144545104
 144556237
  11134
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12501.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 98
 147098591
 147098954
  364
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12523.p1
 6.1
 M
 ASD
 NA
 Full-scale IQ, 91; non-verbal IQ, 91; verbal IQ, 95
 144549620
 144556237
  6618
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12524.p1
 6.4
 F
 Autism
 NA
 Full-scale IQ, 146; non-verbal IQ, 130; verbal IQ, 166
 143842689
 143852119
  9431
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12534.p1
 7
 F
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 83; verbal IQ, 84
 143842689
 143852119
  9431
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12607.p1
 5.3
 M
 ASD
 NA
 Full-scale IQ, 105; non-verbal IQ, 104; verbal IQ, 104
 144549620
 144556237
  6618
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12619.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 87; verbal IQ, 87
 144549620
 144556237
  6618
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12629.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 110; non-verbal IQ, 113; verbal IQ, 101
 144545104
 144556237
  11134
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12647.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 73; verbal IQ, 81
 144549620
 144556237
  6618
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12691.p1
 10.9
 F
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 32; verbal IQ, 39
 147936627
 147952176
  15550
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12708.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 91; verbal IQ, 63
 144545104
 144556237
  11134
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12741.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 87; verbal IQ, 60
 147098591
 147098954
  364
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12851.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 14
 144545104
 144556237
  11134
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12957.p1
 9.5
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 92; verbal IQ, 113
 146354911
 146359571
  4661
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13036.p1
 11.9
 M
 Autism
 NA
 Full-scale IQ, 27; non-verbal IQ, 36; verbal IQ, 19
 144545104
 144556237
  11134
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13060.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 98
 144545104
 144563662
  18559
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13080.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 104; verbal IQ, 121
 144549620
 144556237
  6618
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13152.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 79; verbal IQ, 78
 144730311
 144847434
  117124
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13323.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 114; verbal IQ, 101
 144549620
 144556237
  6618
 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-control110036021624_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  146830412
  147122983
  292572
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB485082_1007853837
  N/A
  N/A
  Control
  No previous psychiatric history
 
  145237657
  145703795
  466139
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB771393_1007874820
  N/A
  N/A
  Control
  No previous psychiatric history
 
  144730311
  144841191
  110881
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB776821_1007846118
  N/A
  N/A
  Control
  No previous psychiatric history
 
  146016485
  146087717
  71233
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB779111_1007874846
  N/A
  N/A
  Control
  No previous psychiatric history
 
  147545604
  147578824
  33221
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900471_900471
  N/A
  N/A
  Control
  No previous psychiatric history
 
  146016541
  146087717
  71177
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900954_900954
  N/A
  N/A
  Control
  No previous psychiatric history
 
  144723696
  145086457
  362762
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901183_901183
  N/A
  N/A
  Control
  No previous psychiatric history
 
  144590456
  144965940
  375485
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902546_902546
  N/A
  N/A
  Control
  No previous psychiatric history
 
  144495265
  144998634
  503370
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902588_902588
  N/A
  N/A
  Control
  No previous psychiatric history
 
  145039496
  145071131
  31636
  GRCh38
  Deletion
  No
  krumm_15_ASD_discovery_controls-control11030.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  145996344
  146028197
  31854
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11187.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  147213438
  147284755
  71318
  GRCh38
  Deletion
  Yes
  nord_11_ASD_discovery_controls-04C26419
 
 
  Control
 
 
  144109627
  144151031
  41405
  Unknown
  Deletion
 
  sanders_11_ASD_discovery_controls-11030.s1
  5.3
  F
  Control (matched sibling)
  NA
  NA
  145874321
  146030686
  156366
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11064.s1
  10
  F
  Control (matched sibling)
  NA
  NA
  144542816
  144811965
  269150
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11117.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  144549620
  144556237
  6618
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11117.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  145082821
  145092718
  9898
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11167.s1
  7.3
  M
  Control (matched sibling)
  NA
  NA
  144549620
  144556237
  6618
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11227.s1
  14.5
  M
  Control (matched sibling)
  NA
  NA
  146827296
  146859007
  31712
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11401.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  145300249
  145305249
  5001
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11495.s1
  7.5
  M
  Control (matched sibling)
  NA
  NA
  146827296
  146859007
  31712
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11543.s1
  18.1
  F
  Control (matched sibling)
  NA
  NA
  144549620
  144556237
  6618
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11634.s1
  9.9
  M
  Control (matched sibling)
  NA
  NA
  144549620
  144556237
  6618
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11827.s1
  20
  F
  Control (matched sibling)
  NA
  NA
  143842689
  143852119
  9431
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11905.s1
  8.6
  F
  Control (matched sibling)
  NA
  NA
  144549620
  144556237
  6618
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11916.s1
  6.9
  F
  Control (matched sibling)
  NA
  NA
  144549620
  144556237
  6618
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11946.s1
  12.9
  M
  Control (matched sibling)
  NA
  NA
  144545104
  144556237
  11134
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12048.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  144549620
  144556237
  6618
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12060.s1
  10.6
  F
  Control (matched sibling)
  NA
  NA
  144549620
  144556237
  6618
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12096.s1
  9.7
  M
  Control (matched sibling)
  NA
  NA
  144549620
  144556237
  6618
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12118.s1
  14.8
  F
  Control (matched sibling)
  NA
  NA
  145055758
  145081335
  25578
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12197.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  144549620
  144556237
  6618
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12235.s1
  6.7
  M
  Control (matched sibling)
  NA
  NA
  144545104
  144556237
  11134
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12426.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  144549620
  144556237
  6618
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12555.s1
  18.9
  F
  Control (matched sibling)
  NA
  NA
  144308364
  144322830
  14467
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12574.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  146535093
  146565345
  30253
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12619.s1
  4.7
  M
  Control (matched sibling)
  NA
  NA
  144549620
  144556237
  6618
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12647.s1
  9.1
  M
  Control (matched sibling)
  NA
  NA
  144549620
  144556237
  6618
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12652.s1
  4.1
  F
  Control (matched sibling)
  NA
  NA
  144549620
  144556237
  6618
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12669.s1
  13.2
  M
  Control (matched sibling)
  NA
  NA
  144549620
  144556237
  6618
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12708.s1
  11.8
  F
  Control (matched sibling)
  NA
  NA
  144549620
  144556237
  6618
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12759.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  144549620
  144556237
  6618
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12785.s1
  16.8
  F
  Control (matched sibling)
  NA
  NA
  147935773
  147954366
  18594
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12892.s1
  15.4
  F
  Control (matched sibling)
  NA
  NA
  147390457
  147422682
  32226
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13070.s1
  11.6
  M
  Control (matched sibling)
  NA
  NA
  144549620
  144556237
  6618
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13187.s1
  6
  M
  Control (matched sibling)
  NA
  NA
  144549620
  144556237
  6618
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 battaglia_13_DD/ID/ASD_discovery_cases-case13
 FISH or qPCR
 Maternal
 Maternal
 Possible multi-generational
 Segregated
 CYCSP44,SPANXN1
 
 chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH2159
 Nimblegen aCGH
 
 De novo
 Unknown
 Unknown
 FMR1-AS1,FMR1
 
 engchuan_15_ASD_discovery_cases-case13003_43
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4203_1
 
 
 Unknown
 
 
 RN7SKP189
 
 engchuan_15_ASD_discovery_cases-case5108_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5277_3
 
 
 Unknown
 
 
 RRM2P4
 
 engchuan_15_ASD_discovery_cases-case5305_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6266_3
 
 
 Unknown
 
 
 
 
 gazzellone_14_ASD_discovery_cases-case550-3
 
 
 Unknown
 Unknown
 Unknown
 
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000082
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RRM2P4,HNRNPCP10
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001113
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 FMR1,FMR1-IT1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004316
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SKP149,PGBD4P6,MTND1P33,MTND2P39,SPANXN3,SLITRK4,HNRNPH1P2,SPANXN2
 
 krumm_15_ASD_discovery_cases-case12803.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 MIR513C,MIR513B,MIR513A1,MIR513A2,MIR506,MIR507,MIR508,MIR514B,MIR509-2,MIR509-3,MIR509-1,MIR510,MIR514A1,MIR514A2,MIR514A3
 
 marshall_08_ASD_discovery_cases-SK0234-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 
 
 marshall_08_ASD_discovery_cases-SK0320-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 RRM2P4
 
 nord_11_ASD_discovery_cases-312-1
 
 
 Maternal
 
 
 SPANXN1
 
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient1
 
 
 Unknown
 Multi-generational
 Unknown
 SLITRK2
 
 prasad_12_ASD_discovery_cases-case130293
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case45554
 
 
 Unknown
 Multiplex
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case68785
 
 
 Unknown
 Unknown
 Unknown
 MIR892A,MIR892B
 
 prasad_12_ASD_discovery_cases-case79449
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case93773L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-caseMM0234-5
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1183-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 SPANXN1
 
 sanders_11_ASD_discovery_cases-11047.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11117.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11227.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11495.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11543.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11768.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11857.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11859.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11872.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11888.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11990.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12118.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 RN7SKP189
 
 sanders_11_ASD_discovery_cases-12119.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12121.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12149.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12150.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12158.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12162.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12233.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12359.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12372.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12396.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12415.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12426.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12460.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12501.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12523.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12524.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12534.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12607.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12619.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12629.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12647.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12691.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FMR1,FMR1-IT1
 
 sanders_11_ASD_discovery_cases-12708.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12741.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12851.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12957.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13036.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13060.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13080.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13152.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 HNRNPCP10
 
 sanders_11_ASD_discovery_cases-13323.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036021624_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB485082_1007853837
 
 
  Unknown
 
 
  SPANXN1
 
engchuan_15_ASD_discovery_controls-controlB771393_1007874820
 
 
  Unknown
 
 
  HNRNPCP10
 
engchuan_15_ASD_discovery_controls-controlB776821_1007846118
 
 
  Unknown
 
 
  MIR891A
 
engchuan_15_ASD_discovery_controls-controlB779111_1007874846
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900471_900471
 
 
  Unknown
 
 
  MIR891A
 
engchuan_15_ASD_discovery_controls-controlHABC_900954_900954
 
 
  Unknown
 
 
  HNRNPCP10,RN7SKP189
 
engchuan_15_ASD_discovery_controls-controlHABC_901183_901183
 
 
  Unknown
 
 
  HNRNPCP10
 
engchuan_15_ASD_discovery_controls-controlHABC_902546_902546
 
 
  Unknown
 
 
  HNRNPCP10
 
engchuan_15_ASD_discovery_controls-controlHABC_902588_902588
 
 
  Unknown
 
 
  RN7SKP189
 
krumm_15_ASD_discovery_controls-control11030.s1
  Illumina 1M
 
  Maternal
 
 
  MIR892A,MIR892B,MIR891B,MIR891A
 
krumm_15_ASD_discovery_controls-control11187.s1
  Illumina 1M
 
  Maternal
 
 
  MIR513A1,MIR513A2,MIR506,MIR507,MIR508,MIR514B,MIR509-2,MIR509-3,MIR509-1,MIR510,MIR514A1,MIR514A2,MIR514A3
 
nord_11_ASD_discovery_controls-04C26419
 
 
 
 
 
  SPANXN1
 
sanders_11_ASD_discovery_controls-11030.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MIR892C,MIR890,MIR888,MIR892A,MIR892B,MIR891B,MIR891A
 
sanders_11_ASD_discovery_controls-11064.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11117.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11117.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11167.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11227.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11401.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11495.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11543.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11634.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11827.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11905.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11916.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11946.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12048.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12060.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12096.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12118.s1
 
 
  Both parents
  Simplex (quad)
  NA
  RN7SKP189
 
sanders_11_ASD_discovery_controls-12197.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12235.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12426.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12555.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RRM2P4
 
sanders_11_ASD_discovery_controls-12574.s1
 
 
  Both parents
  Simplex (quad)
  NA
  ELL2P4
 
sanders_11_ASD_discovery_controls-12619.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12647.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12652.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12669.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12708.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12759.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12785.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FMR1,FMR1-IT1
 
sanders_11_ASD_discovery_controls-12892.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13070.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13187.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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