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Xq21.31CNV Type: Deletion-Duplication


Largest CNV size: 555503 bp

Statistics Box:
Number of Reports: 15



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Non-syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Microduplication of 15q13.3 and Xq21.31 in a family with Tourette syndrome and comorbidities.
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
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
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Duplication
NA
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_discovery_cases
 Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
 880
 REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
 N/A
 N/A
 6250
 0
 1
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 782064
 2
 7
 9
 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
 72136
 1
 0
 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
 791660
 2
 1
 3
 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
 
 
 143151
 0
 1
 1
 melchior_13_TS/ADHD/OCD_discovery_cases
 Three affected brothers from a family with Tourette syndrome and comorbidities
 3
 Diagnosis of Tourette syndrome (TS) based on DSM-IV-TR criteria in all three cases; two cases with additional diagnoses of OCD, one case with additional diagnosis of ADHD
 N/A
 Male
 732000
 0
 3
 3
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 22250
 1
 0
 1
 oikonomakis_16_ASD_discovery_cases
 ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
 195
 Cases assessed for ASD according to DSM-IV behavioral criteria
 Range, 1-38 yrs.
 64.61% Male
 87020
 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
 142745
 1
 3
 4
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 555503
 13
 1
 14
 speevak_11_DD_discovery_cases
 Patient referred to genetics clinic (Dept. of Genetics & Laboratory Medicine, Credit Valley Hospital, Ontario, Canada) for non-syndromic speech delay
 1
 Developmental delay (non-syndromic significant speech delay). Differential diagnosis of ASD ruled out by psychiatric assessment at 3.5 yrs., but no specific diagnosis suggested.
 4.5 yrs.
 Male
 220000
 1
 0
 1
 stamouli_18_ASD/NDD_discovery_cases
  NA NA
 Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
 100 twin pairs
 Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
 N/A
 N/A
 222958
 1
 1
 2
 vaags_11_ASD_discovery_cases
 Discovery cohort of Canadian individuals with ASD
 1158
 ASD
 NA
 NA
 451811
 0
 2
 2
 xu_16_ASD/DD/ID_discovery_cases
 Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
 115
 66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
 Range, 18 months-15.1 years (mean age, 5.7 years)
 72.17% Male
 2700000
 0
 1
 1
 yuen_17_ASD_discovery_cases
 ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
 2626
 ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
 N/A
 78.71% Male
 334999
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 1722532
 7
 5
 12
 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
 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.
 
 22250
 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)
 142745
 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.
 
 84707
 21
 1
 22
 stamouli_18_ASD/NDD_discovery_controls
  NA NA
 Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
 100 twin pairs
 Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
 N/A
 N/A
 222958
 1
 0
 1

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brandler_18_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq X10 or HiSeq 2500
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 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
 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
 melchior_13_TS/ADHD/OCD_discovery_cases
  Denmark
 Array SNP, qPCR
  Affymetrix CytoScan HD
 
 Affymetrix ChAS
 qPCR
 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
 oikonomakis_16_ASD_discovery_cases
  Greece
 aCGH
  Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
 
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 speevak_11_DD_discovery_cases
  NA
 aCGH
  CytoChip 105K array
 
 BlueFuse Multi
 FISH, microsatellite, PCR
 stamouli_18_ASD/NDD_discovery_cases
  Swedish
 Solid phase hybridization
  Illumina Infinium PsychArray-24 v1.1
 PennCNV, QuantiSNP, iPattern, iPsychCNV
 
 None
 vaags_11_ASD_discovery_cases
  Canadian
 aCGH, array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
 
 
 None
 xu_16_ASD/DD/ID_discovery_cases
  N/A
 aCGH, array SNP
  BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
 
 Affymeytrix Genotyping Console v3.0.2
 None
 yuen_17_ASD_discovery_cases
  N/A
 WGS
  Complete Genomics, Illumina HiSeq 2000, HiSeq X
 
 
 aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)

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
 
  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
 
 
  stamouli_18_ASD/NDD_discovery_controls
  Swedish
  Solid phase hybridization
  Illumina Infinium PsychArray-24 v1.1
  PennCNV, QuantiSNP, iPattern, iPsychCNV
 
  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
  brandler_18_ASD_discovery_cases-case1032
 N/A
 M
 ASD
 Case from REACH cohort
 
 88203500
 88209749
  6250
 GRCh38
 Duplication
 No (false positive)
  engchuan_15_ASD_discovery_cases-case14197_3210
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 90842794
 90991677
  148884
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20103_1473001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 91913327
 92095162
  181836
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20151_1636001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 91829086
 92133350
  304265
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3586_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 87835596
 88602646
  767051
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5257_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 91749294
 92164356
  415063
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5415_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 88910868
 89475308
  564441
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5515_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 91785631
 92164356
  378726
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5515_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 89214794
 89996858
  782065
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8475_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 87294969
 87432207
  137239
 GRCh38
 Duplication
 No
  gazzellone_14_ASD_discovery_cases-case565-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 91562397
 91634533
  72137
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004660
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 90075089
 90598975
  523887
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005193
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 88378629
 89096387
  717759
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005280
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 88829694
 89621356
  791663
 GRCh38
 Deletion
 Yes
  marshall_08_ASD_discovery_cases-MM0020-004
 NA
 M
 ASD
 NA
 NA
 88390904
 88534054
  143151
 GRCh38
 Duplication
 Yes
  melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-2
 N/A
 M
 TS and OCD
 Diagnosis of Tourette syndrome (TS) based on DSM-IV-TR criteria. Additional diagnosis of obsessive-compulsive disorder (OCD). Family history: younger brothers with Tourette syndrome, OCD, and ADHD (melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-4) and Tourette syndrome (melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-3) , mother with subclinical ADHD, father with subclinical OCD, family history of subclinical OCD and obsessive-compulsive behavior on maternal and paternal sides, and of tics on maternal side.
 
 90677266
 91409681
  732000
 Unknown
 Duplication
 No
  melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-3
 8.5 yrs.
 M
 TS
 Diagnosis of Tourette syndrome (TS) based on DSM-IV-TR criteria. Case started to have tics at age of 6 years 10 months; symptoms of sleeping disturbances and depression, but no symptoms of ADHD, OCD, rage attacks, seasonal affective disorder,or stuttering; did not receive any medical treatment. Family history: monozygotic twin brother with Tourette syndrome, OCD, and ADHD (melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-4), older brother with Tourette syndrome and OCD (melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-2), mother with subclinical ADHD, father with subclinical OCD, family history of subclinical OCD and obsessive-compulsive behavior on maternal and paternal sides, and of tics on maternal side.
 Full scale IQ of 80; attending a normal school without any educational support.
 90677266
 91409681
  732000
 Unknown
 Duplication
 No
  melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-4
 8.5 yrs.
 M
 TS, ADHD, and OCD
 Diagnosis of Tourette syndrome (TS) based on DSM-IV-TR criteria. Additional diagnoses of obsessive-compulsive disorder (OCD) and ADHD. Case started to have tics at age of 7.5 years (total tic store at age of 8.5 years); methylphenidate treatment initiated at age of 8 years for ADHD symptoms; case also had OCD and rage attacks, did not have seasonal affective disorder, depression, sleeping disturbances, or stuttering. Family history: monozygotic twin brother with Tourette syndrome (melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-3), older brother with Tourette syndrome and OCD (melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-2), mother with subclinical ADHD, father with subclinical OCD, family history of subclinical OCD and obsessive-compulsive behavior on maternal and paternal sides, and of tics on maternal side.
 Full scale IQ of 82; received special educational support in school.
 90677266
 91409681
  732000
 Unknown
 Duplication
 Yes
  nord_11_ASD_discovery_cases-223-1
 
 
 ASD
 
 
 88039568
 88061817
  22250
 Unknown
 Deletion
 No
  oikonomakis_16_ASD_discovery_cases-case4
 4 yrs.
 M
 ASD
 Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: seizures, behavioral problems, hyperactivity, atrophy of hippocampus on MRI
 
 91783451
 91870472
  87022
 GRCh38
 Deletion
 No
  prasad_12_ASD_discovery_cases-case126173
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 86873819
 86961602
  87784
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case165455L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 86676382
 86719620
  43239
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case165455L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 86370227
 86427222
  56996
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case47838
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 87538811
 87681555
  142745
 Unknown
 Duplication
 No
  sanders_11_ASD_discovery_cases-11252.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 96
 88902080
 88910967
  8888
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11440.p1
 8.2
 F
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 90; verbal IQ, 122
 90145663
 90209180
  63518
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11446.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 63
 88424986
 88431940
  6955
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11660.p1
 5
 F
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 60; verbal IQ, 63
 90634786
 90702917
  68132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11676.p1
 7.1
 F
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
 90202351
 90230370
  28020
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11794.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 33
 90449354
 90865709
  416356
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11794.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 33
 89441355
 89996858
  555504
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12300.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 102
 88902080
 88910967
  8888
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12360.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 101
 88424986
 88431940
  6955
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12403.p1
 11.9
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
 88424986
 88431940
  6955
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12434.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 121; verbal IQ, 106
 88902080
 88910967
  8888
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12521.p1
 7.2
 F
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 78; verbal IQ, 83
 88305609
 88315806
  10198
 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
 88902080
 88910967
  8888
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13031.p1
 5.1
 F
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
 89365562
 89421635
  56074
 GRCh38
 Deletion
 No
  speevak_11_DD_discovery_cases-case1
 4.5 yrs.
 M
 Developmental delay/speech delay
 Developmental milestones: significant speech delay (first words at 2 yrs.; at 4.5 yrs., patient was only able to use a few words in a sentence, which were not easily understood). Behavioral characteristics: aggressive behavior, autistic traits (spitting and rocking with excessive hand movements and solitary play noted at 3.5 yrs.; however, a differential diagnosis of ASD ruled out by psychiatric assessment at the time, but no specific diagnosis was suggested). Dysmorphic features: no major dysmorphic or congenitally abnormal features, other than mild 2-3 toe syndactyly. Growth parameters: height, 90th %ile; wieght, 50th %ile; head circumference, 10th %ile.
 
 91870238
 92134489
  264252
 GRCh38
 Deletion
 Yes
  stamouli_18_ASD/NDD_discovery_cases-family46_Twin_2
  NA NA
 N/A
 N/A
 ASD/NDD
 Case is from a monozygotic twin pair from the Concordant ASD/Concordant NDD diagnostic group
 
 88192619
 88304625
  112007
 GRCh38
 Duplication
 No
  stamouli_18_ASD/NDD_discovery_cases-family53_Twin_2
  NA NA
 N/A
 N/A
 ASD/NDD
 Case is from a monozygotic twin pair from the Discordant ASD/Discordant NDD diagnostic group
 
 88142419
 88365376
  222958
 GRCh38
 Deletion
 No
  vaags_11_ASD_discovery_cases-probandF1-003
 16 yrs. 7 mos.
 M
 Asperger syndrome
 Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21; has NRXN3 deletion).
 Leiter-R IQ: 119 (92nd %ile)
 89814439
 89996858
  182420
 GRCh38
 Duplication
 No
  vaags_11_ASD_discovery_cases-probandF2-003
 3 yrs. 5 mos.
 M
 Autism
 Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
 Leiter-R IQ: incomplete (test attempted but proband failed to complete)
 89456093
 89907903
  451811
 GRCh38
 Duplication
 No
  xu_16_ASD/DD/ID_discovery_cases-case32
 N/A
 N/A
 ASD
 Case with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis). Note: CNV position in this report given as RP11-192B18 (chrX:86,116,369-86,288,215,hg17).
 
 N/A
 N/A
  2700000
 NCBI35
 Duplication
 No
  yuen_17_ASD_discovery_cases-case7-0162-003
 N/A
 N/A
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
 
 91560002
 91895001
  335000
 GRCh38
 Duplication
 Yes

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-control110036016566_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  89214794
  90937326
  1722533
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB256025_1007875987
  N/A
  N/A
  Control
  No previous psychiatric history
 
  89189020
  90025883
  836864
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB313016_1007842089
  N/A
  N/A
  Control
  No previous psychiatric history
 
  88567199
  88665951
  98753
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB437078_1007874489
  N/A
  N/A
  Control
  No previous psychiatric history
 
  91405977
  92125143
  719167
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB437078_1007874489
  N/A
  N/A
  Control
  No previous psychiatric history
 
  89189020
  90025883
  836864
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB505135_1007854094
  N/A
  N/A
  Control
  No previous psychiatric history
 
  89197215
  90008035
  810821
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB567421_1007848476
  N/A
  N/A
  Control
  No previous psychiatric history
 
  91046495
  91088316
  41822
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB772514_1007874267
  N/A
  N/A
  Control
  No previous psychiatric history
 
  89189020
  90025883
  836864
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB853244_1007844851
  N/A
  N/A
  Control
  No previous psychiatric history
 
  89048572
  89996858
  948287
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB874843_1007854362
  N/A
  N/A
  Control
  No previous psychiatric history
 
  89197215
  89996858
  799644
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB932732_1007844759
  N/A
  N/A
  Control
  No previous psychiatric history
 
  91793963
  92201459
  407497
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900558_900558
  N/A
  N/A
  Control
  No previous psychiatric history
 
  91829086
  92133350
  304265
  GRCh38
  Duplication
  No
  nord_11_ASD_discovery_controls-04C27412
 
 
  Control
 
 
  88039568
  88061817
  22250
  Unknown
  Deletion
 
  sanders_11_ASD_discovery_controls-11190.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  89925042
  89941748
  16707
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11220.s1
  13.6
  F
  Control (matched sibling)
  NA
  NA
  90981954
  91023427
  41474
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11367.s1
  4.6
  F
  Control (matched sibling)
  NA
  NA
  90108648
  90183283
  74636
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11440.s1
  12.5
  F
  Control (matched sibling)
  NA
  NA
  90145663
  90230370
  84708
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11568.s1
  16.7
  F
  Control (matched sibling)
  NA
  NA
  90915363
  90999190
  83828
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11620.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  90202351
  90230370
  28020
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11676.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  90202351
  90230370
  28020
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11798.s1
  7.2
  F
  Control (matched sibling)
  NA
  NA
  88304625
  88315806
  11182
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11928.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  88902080
  88910967
  8888
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12048.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  88291759
  88372009
  80251
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12060.s1
  10.6
  F
  Control (matched sibling)
  NA
  NA
  90634786
  90653137
  18352
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12106.s1
  10.9
  F
  Control (matched sibling)
  NA
  NA
  90638915
  90653137
  14223
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12189.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  88942025
  88969548
  27524
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12231.s1
  12.3
  F
  Control (matched sibling)
  NA
  NA
  88075093
  88081487
  6395
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12363.s1
  21.9
  M
  Control (matched sibling)
  NA
  NA
  88902080
  88910967
  8888
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12377.s1
  20.6
  F
  Control (matched sibling)
  NA
  NA
  88304625
  88372009
  67385
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12434.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  88902080
  88910967
  8888
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12578.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  90202351
  90230370
  28020
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12647.s1
  9.1
  M
  Control (matched sibling)
  NA
  NA
  88902080
  88910967
  8888
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12681.s1
  12.8
  F
  Control (matched sibling)
  NA
  NA
  88305609
  88369723
  64115
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12907.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  91545746
  91596871
  51126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13233.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  88305609
  88369723
  64115
  GRCh38
  Deletion
  No
  stamouli_18_ASD/NDD_discovery_controls-family53_Twin_1
  N/A
  N/A
  Control
  Control is from a monozygotic twin pair from the Discordant ASD/Discordant NDD diagnostic subgroup
 
  88142419
  88365376
  222958
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_discovery_cases-case1032
 SNP VCF
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14197_3210
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case20103_1473001
 
 
 Unknown
 
 
 VDAC1P3,PCDH11X
 
 engchuan_15_ASD_discovery_cases-case20151_1636001
 
 
 Unknown
 
 
 VDAC1P3,EIF4A1P10,PCDH11X
 
 engchuan_15_ASD_discovery_cases-case3586_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5257_3
 
 
 Unknown
 
 
 RNU2-26P,VDAC1P3,EIF4A1P10,PCDH11X
 
 engchuan_15_ASD_discovery_cases-case5415_3
 
 
 Unknown
 
 
 SRIP2
 
 engchuan_15_ASD_discovery_cases-case5515_3
 
 
 Unknown
 
 
 RNU2-26P,VDAC1P3,EIF4A1P10,PCDH11X
 
 engchuan_15_ASD_discovery_cases-case5515_3
 
 
 Unknown
 
 
 SRIP2,TGIF2LX
 
 engchuan_15_ASD_discovery_cases-case8475_202
 
 
 Unknown
 
 
 
 
 gazzellone_14_ASD_discovery_cases-case565-3
 
 
 Unknown
 Unknown
 Unknown
 
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004660
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 USP12PX,UBE2V1P9,RNU6-555P,RNF19BPX
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005193
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 CPXCR1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005280
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SRIP2
 
 marshall_08_ASD_discovery_cases-MM0020-004
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 
 
 melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-2
 
 
 Maternal
 Multiplex
 Segregated (CNV segregates with Tourette syndrome)
 PABPC5, PCDH11X
 
 melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-3
 
 
 Maternal
 Multiplex
 Segregated (CNV segregates with Tourette syndrome)
 PABPC5, PCDH11X
 
 melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-4
 qPCR
 
 Maternal
 Multiplex
 Segregated (CNV segregates with Tourette syndrome)
 PABPC5, PCDH11X
 
 nord_11_ASD_discovery_cases-223-1
 
 
 Maternal
 
 
 0 genes
 
 oikonomakis_16_ASD_discovery_cases-case4
 
 
 De novo
 
 
 RNU2-26P,PCDH11X
 
 prasad_12_ASD_discovery_cases-case126173
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case165455L
 
 
 Unknown
 Unknown
 Unknown
 KLHL4
 
 prasad_12_ASD_discovery_cases-case165455L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case47838
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11252.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11440.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11446.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11660.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11676.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RNF19BPX
 
 sanders_11_ASD_discovery_cases-11794.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 RNU6-555P
 
 sanders_11_ASD_discovery_cases-11794.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 TGIF2LX
 
 sanders_11_ASD_discovery_cases-12300.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12360.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12403.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12434.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12521.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12647.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13031.p1
 
 
 Both parents
 Simplex (trio)
 NA
 SRIP2
 
 speevak_11_DD_discovery_cases-case1
 FISH, microsatellite, PCR
 
 Maternal
 NA
 NA
 VDAC1P3,EIF4A1P10,PCDH11X
 
 stamouli_18_ASD/NDD_discovery_cases-family46_Twin_2
 
 
 Unknown
 Multiplex
 Not segregated (CNV not present in affected twin)
 
 
 stamouli_18_ASD/NDD_discovery_cases-family53_Twin_2
 
 
 Unknown
 Simplex
 Not segregated (CNV also present in unaffected twin)
 
 
 vaags_11_ASD_discovery_cases-probandF1-003
 
 
 Unknown
 Simplex
 Unknown
 TGIF2LX
 
 vaags_11_ASD_discovery_cases-probandF2-003
 
 
 Unknown
 Multiplex
 Unknown
 
 
 xu_16_ASD/DD/ID_discovery_cases-case32
 
 
 Maternal
 
 
 CNV gene content N/A (CNV start and end points N/A)
 
 yuen_17_ASD_discovery_cases-case7-0162-003
 Affymetrix CytoScan HD
 
 Unknown
 Simplex
 Unknown
 SERBP1P4,RNU2-26P,PCDH11X
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036016566_
 
 
  Unknown
 
 
  SRIP2,TGIF2LX,USP12PX,UBE2V1P9,RNU6-555P,RNF19BPX
 
engchuan_15_ASD_discovery_controls-controlB256025_1007875987
 
 
  Unknown
 
 
  SRIP2,TGIF2LX
 
engchuan_15_ASD_discovery_controls-controlB313016_1007842089
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB437078_1007874489
 
 
  Unknown
 
 
  PABPC5,SERBP1P4,RNU2-26P,VDAC1P3,EIF4A1P10,PABPC5-AS1,PCDH11X
 
engchuan_15_ASD_discovery_controls-controlB437078_1007874489
 
 
  Unknown
 
 
  SRIP2,TGIF2LX
 
engchuan_15_ASD_discovery_controls-controlB505135_1007854094
 
 
  Unknown
 
 
  SRIP2,TGIF2LX
 
engchuan_15_ASD_discovery_controls-controlB567421_1007848476
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB772514_1007874267
 
 
  Unknown
 
 
  SRIP2,TGIF2LX
 
engchuan_15_ASD_discovery_controls-controlB853244_1007844851
 
 
  Unknown
 
 
  SRIP2,TGIF2LX
 
engchuan_15_ASD_discovery_controls-controlB874843_1007854362
 
 
  Unknown
 
 
  SRIP2,TGIF2LX
 
engchuan_15_ASD_discovery_controls-controlB932732_1007844759
 
 
  Unknown
 
 
  RNU2-26P,VDAC1P3,EIF4A1P10,PCDH11X
 
engchuan_15_ASD_discovery_controls-controlHABC_900558_900558
 
 
  Unknown
 
 
  VDAC1P3,EIF4A1P10,PCDH11X
 
nord_11_ASD_discovery_controls-04C27412
 
 
 
 
 
  0 genes
 
sanders_11_ASD_discovery_controls-11190.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11220.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11367.s1
 
 
  Unknown
  Simplex (quad)
  NA
  USP12PX
 
sanders_11_ASD_discovery_controls-11440.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNF19BPX
 
sanders_11_ASD_discovery_controls-11568.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11620.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNF19BPX
 
sanders_11_ASD_discovery_controls-11676.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNF19BPX
 
sanders_11_ASD_discovery_controls-11798.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11928.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12048.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12060.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12106.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12189.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12231.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12363.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12377.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12434.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12578.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNF19BPX
 
sanders_11_ASD_discovery_controls-12647.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12681.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12907.s1
 
 
  Both parents
  Simplex (quad)
  NA
  SERBP1P4
 
sanders_11_ASD_discovery_controls-13233.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
stamouli_18_ASD/NDD_discovery_controls-family53_Twin_1
 
 
  Unknown
  Simplex
 
 
 

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