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Xq21.1CNV Type: Deletion-Duplication


Largest CNV size: 735502 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
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Duplication
NA
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.
Duplication
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...
Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
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-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Duplication
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 690000
 0
 2
 2
 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
 288274
 1
 3
 4
 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
 39842
 1
 1
 2
 giovenino_23_DD/ID_discovery_cases
 Affected male with negative results after trio-exome sequencing, chromosomal microarray, and FRAXA who was subsequently found to have a deletion affecting the ATRX gene inherited from a mother with complete X-chromosome inactivation skewing (100:0) who was from a large international collaborative study consisting of 92 affected females and 189 mothers of affected males.
 1
 Case presented with developmental delay (DD) and intellectual disability (ID).
 13 yrs.
 Male
 5973
 1
 0
 1
 han_22_ASD/DD/ID_discovery_cases
  NA NA
 Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
 410
 151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
 Mean age, 2 yrs. 11 mos.
 68.78% Male
 799231
 0
 1
 1
 iourov_12_ASD/ID/EP_discovery_cases
 Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
 54
 Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
 Range, 3 mos.-11 yrs.
 NA
 211646
 2
 0
 2
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 1906364
 4
 9
 13
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 411121
 0
 2
 2
 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
 163764
 0
 2
 2
 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
 
 
 115011
 0
 1
 1
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 130318
 1
 3
 4
 qiao_12_ASD/ID_discovery_cases
 Cohort recruited through Autism Spectrum Interdisciplinary Research (ASPIRE) program of the University of Britisn Columbia Provincial Medical Genetics Program in Vancouver, Canada (ASD-CARC)
 52
 ASD and/or ID (intellectual disability)
 NA
 NA
 137348
 0
 1
 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
 735502
 17
 2
 19
 sansovic_17_DD/ID/ASD_discovery_cases
 Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
 337
 Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
 Mean, 7 years (range, 1 month-25 years)
 N/A
 155000
 0
 2
 2
 tzetis_12_DD/ID_discovery_cases
 Patients referred for aCGH analysis from 2008-present
 334
 Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
 Range, 1 month-38 years (median age of 4 years)
 
 1830000
 1
 0
 1
 willemsen_12_DD/ID_discovery_cases
 Individuals referred between Jan. 2003 and August 2010 to diagnostic center at Dept. of Human Genetics, Radboud Univ. Mijmegen Medical Centre, Nijmegen, The Netherlands for genome-wide array analysis (emphasis on X chromosome CNVs)
 4407
 Majority of cases: indication of developmental delay/intellectual disability [with or without other neuropsychiatric disorders (ASD, ADHD, etc.) and/or congenital anomalies]. Minority of cases: congenital anomalies or behavioral problems without DD/ID.
 2/3 of cases: age range of 1-18 yrs.
 54.5% Male
 600000
 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
 185791
 1
 4
 5
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 690450
 0
 2
 2
 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.
 
 30724
 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)
 130318
 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.
 
 735502
 16
 6
 22

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 qPCR
 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
 giovenino_23_DD/ID_discovery_cases
  NA
 NGS
  Illumina NovaSeq6000
 NA
 Genome Analysis Toolkit v.3.8.1.6, BamUtil v.1.4.14, Integrative Genome Browser Visualization
 Sanger sequencing
 han_22_ASD/DD/ID_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix SNP 6.0, Affymetrix CytoScan HD
 
 
 
 iourov_12_ASD/ID/EP_discovery_cases
  Russian
 aCGH
  BACs aCGH
 
 
 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)
 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
 qiao_12_ASD/ID_discovery_cases
  Canadian
 Array SNP
  Affymetrix 2.7M
 
 Affymetrix ChAS v.1.1
 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
 
 
 sansovic_17_DD/ID/ASD_discovery_cases
  Croatia
 aCGH
  Agilent SurePrint G3 Unrestricted CGH ISCA v2
 
 Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
 None
 tzetis_12_DD/ID_discovery_cases
  Greece
 aCGH
  Agilent 244K, Agilent 4x180K
 ADM-1
 Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
 None
 willemsen_12_DD/ID_discovery_cases
  Netherlands
 aCGH, array SNP
  Agilent 32K BAC array, Affymetrix 250K
 
 CNAG V2.0 (SNP array)
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  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
  digregorio_17_DD/ID_discovery_cases-DECIPHER_299788
  NA NA
 N/A
 F
 Cognitive impairment
 
 Cognitive impairment
 80113129
 80803547
  690419
 GRCh38
 Duplication
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_299920
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 79111508
 79618323
  506816
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13083_973
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 83136020
 83280460
  144441
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case1376_301
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 77791798
 77888277
  96480
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14088_1520
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 81213117
 81272943
  59827
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6260_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 77057703
 77345959
  288257
 GRCh38
 Duplication
 No
  gazzellone_14_ASD_discovery_cases-case517-3
 6 yrs.
 F
 ASD
 ASD; no other clinical information provided
 N/A
 82043169
 82083011
  39843
 GRCh38
 Deletion
 No
  gazzellone_14_ASD_discovery_cases-case610-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 83718557
 83742757
  24201
 GRCh38
 Duplication
 No
  giovenino_23_DD/ID_discovery_cases-caseFam236-II:1
 13 yrs.
 M
 Developmental delay and intellectual disability
 Developmental milestones: developmental delay. Motor and musculoskeletal evaluation: hypotonia. Dysmorphic features: yes.
 Intellectual disability
 77697544
 77703516
  5973
 GRCh38
 Deletion
 Yes
  han_22_ASD/DD/ID_discovery_cases-case17D272
  NA NA
 5 mos. 9 days
 M
 Developmental delay
 Cerebral dysplasia
 
 77708120
 78507350
  799231
 GRCh38
 Duplication
 No
  iourov_12_ASD/ID/EP_discovery_cases-case41
 3 yrs.
 F
 Developmental delay
 Severe speech delay, microcephaly, facial dysmorphisms, single transverse palmar crease. Karyotype: 9qh-.
 Severe cognitive delay
 32982115
 33100809
  118695
 GRCh38
 Deletion
 No
  iourov_12_ASD/ID/EP_discovery_cases-case50
 4 yrs.
 F
 Developmental delay/intellectual disability and autism
 Autism, Rett syndrome-like phenotype
 Developmental delay/intellectual disability
 77547727
 77759371
  211645
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000120
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 77914709
 78039013
  124305
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000409
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 77784830
 78691660
  906831
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000834
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 77456321
 77702484
  246164
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001676
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 80629216
 80762500
  133285
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001937
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 77829855
 78514258
  684404
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001983
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 77829855
 77858051
  28197
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002326
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 77829855
 77858051
  28197
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002753
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 79350406
 79835322
  484917
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004501
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 77490616
 77524711
  34096
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004539
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 77448504
 77783428
  334925
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004556
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 77829855
 77902263
  72409
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004612
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 80629216
 81630346
  1001131
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005193
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 82075288
 83982093
  1906806
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12492.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 84064276
 84475397
  411122
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13647.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 77829219
 77875597
  46379
 GRCh38
 Duplication
 Yes
  mosca_16_DCD_discovery_cases-case117803
 N/A
 F
 DCD (with or without ADHD and/or RD)
 Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
 
 84864276
 85028039
  163764
 GRCh38
 Duplication
 No
  mosca_16_DCD_discovery_cases-case125603
 N/A
 F
 DCD
 Ancestry: Chinese. Family history: maternal diagnosis unaffected; paternal diagnosis reading disorder.
 
 81949633
 82062913
  113281
 GRCh38
 Duplication
 No
  pinto_10_ASD_discovery_cases-case6379_4
 NA
 M
 Autism
 Language delay, normal physical exam, no epilepsy
 Mild MR
 76915420
 77030430
  115011
 Unknown
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case100564
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 82774858
 82905175
  130318
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case139459L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 81077924
 81201614
  123691
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case56040
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 79986536
 80061221
  74686
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case88032
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 81072871
 81181703
  108833
 Unknown
 Duplication
 No
  qiao_12_ASD_discovery_cases-case05-60
 NA
 NA
 ASD and/or ID
 NA
 NA
 76978583
 77115931
  137348
 Unknown
 Duplication
 No
  sanders_11_ASD_discovery_cases-11047.p1
 10.4
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 74; verbal IQ, 36
 79892818
 79933011
  40194
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11052.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 97; verbal IQ, 90
 82944293
 82946328
  2036
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11086.p1
 7.4
 F
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 82; verbal IQ, 93
 81497451
 81527311
  29861
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11296.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 82; verbal IQ, 71
 84192859
 84197582
  4724
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11475.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 86; verbal IQ, 110
 81497451
 81521589
  24139
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11555.p1
 9.1
 F
 Aspergers
 NA
 Full-scale IQ, 95; non-verbal IQ, 98; verbal IQ, 91
 83399785
 83454657
  54873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11580.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 88; verbal IQ, 64
 82944293
 82946328
  2036
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11839.p1
 4
 M
 ASD
 NA
 Full-scale IQ, 100; non-verbal IQ, 101; verbal IQ, 99
 82338144
 82369585
  31442
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11846.p1
 15.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
 81491584
 81521589
  30006
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11879.p1
 5.3
 F
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 89; verbal IQ, 69
 80291800
 80293772
  1973
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12243.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 107
 82944293
 82952227
  7935
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12261.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 73
 81750979
 81791171
  40193
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12492.p1
 15.4
 M
 Autism
 NA
 Full-scale IQ, 26; non-verbal IQ, 30; verbal IQ, 19
 84054089
 84789592
  735504
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12524.p1
 6.4
 F
 Autism
 NA
 Full-scale IQ, 146; non-verbal IQ, 130; verbal IQ, 166
 79846948
 79848529
  1582
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12626.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 111; verbal IQ, 76
 79846948
 79848529
  1582
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12748.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 95; verbal IQ, 93
 82944293
 82952227
  7935
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12828.p1
 9.3
 F
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 57; verbal IQ, 66
 82006805
 82031148
  24344
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13136.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 42; non-verbal IQ, 53; verbal IQ, 31
 81497451
 81521589
  24139
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13222.p1
 17.1
 F
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 86; verbal IQ, 93
 76909582
 76923979
  14398
 GRCh38
 Deletion
 No
  sansovic_17_DD/ID/ASD_discovery_cases-case104
 3 yrs.
 M
 Developmental delay/intellectual disability and ASD
 Developmental delay/intellectual disability, ASD
 
 80522412
 80677127
  154716
 GRCh38
 Duplication
 No
  sansovic_17_DD/ID/ASD_discovery_cases-case82
 21 yrs.
 M
 Congenital anomalies
 Congenital anomalies
 
 77849914
 77871956
  22043
 GRCh38
 Duplication
 No
  tzetis_12_DD/ID_discovery_cases-case84
 
 M
 ADHD
 Bilateral hearing loss, ADHD
 
 81930916
 83760960
  1830045
 GRCh38
 Deletion
 No
  willemsen_12_DD/ID_discovery_cases-case54
 
 F
 Intellectual disability
 Renal dysgenesis, optical coloboma
 Intellectual disability
 77303164
 78227847
  924684
 GRCh38
 Duplication
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-controlB264851_1007876013
  N/A
  N/A
  Control
  No previous psychiatric history
 
  84847928
  85033720
  185793
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB521946_1007854330
  N/A
  N/A
  Control
  No previous psychiatric history
 
  77791798
  77888277
  96480
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB680984_1007873423
  N/A
  N/A
  Control
  No previous psychiatric history
 
  77791798
  77888277
  96480
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900090_900090
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83181543
  83222385
  40843
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900366_900366
  N/A
  N/A
  Control
  No previous psychiatric history
 
  77782199
  77888277
  106079
  GRCh38
  Duplication
  No
  krumm_15_ASD_discovery_controls-control12492.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  84064276
  84475397
  411122
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12871.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  76918948
  77574358
  655411
  GRCh38
  Duplication
  Yes
  nord_11_ASD_discovery_controls-04C26509
 
 
  Control
 
 
  80636413
  80667136
  30724
  Unknown
  Deletion
 
  nord_11_ASD_discovery_controls-04C28226
 
 
  Control
 
 
  82010068
  82039092
  29025
  Unknown
  Deletion
 
  sanders_11_ASD_discovery_controls-11033.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  79905222
  79923580
  18359
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11086.s1
  9.3
  M
  Control (matched sibling)
  NA
  NA
  81497451
  81527311
  29861
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11360.s1
  8.4
  F
  Control (matched sibling)
  NA
  NA
  79846948
  79848529
  1582
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11554.s1
  4.6
  M
  Control (matched sibling)
  NA
  NA
  78195238
  78445181
  249944
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11554.s1
  4.6
  M
  Control (matched sibling)
  NA
  NA
  82679727
  82993020
  313294
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11580.s1
  11.8
  M
  Control (matched sibling)
  NA
  NA
  82944293
  82946328
  2036
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11667.s1
  8.3
  M
  Control (matched sibling)
  NA
  NA
  77791798
  77888277
  96480
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11723.s1
  4.5
  F
  Control (matched sibling)
  NA
  NA
  80100536
  80120122
  19587
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11731.s1
  5.3
  F
  Control (matched sibling)
  NA
  NA
  82944293
  82952227
  7935
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11753.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  76909582
  76923979
  14398
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11979.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  79846948
  79850112
  3165
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12154.s1
  9.1
  F
  Control (matched sibling)
  NA
  NA
  83575111
  83596076
  20966
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12231.s1
  12.3
  F
  Control (matched sibling)
  NA
  NA
  82720185
  82787885
  67701
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12370.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  76906204
  76923979
  17776
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12375.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  79745375
  79765169
  19795
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12492.s1
  13.1
  M
  Control (matched sibling)
  NA
  NA
  84054089
  84789592
  735504
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12524.s1
  4.4
  F
  Control (matched sibling)
  NA
  NA
  79846948
  79848529
  1582
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12748.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  82944293
  82952227
  7935
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12962.s1
  8.3
  F
  Control (matched sibling)
  NA
  NA
  76909582
  76923979
  14398
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13222.s1
  13.5
  F
  Control (matched sibling)
  NA
  NA
  76909582
  76923979
  14398
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13303.s1
  17.5
  M
  Control (matched sibling)
  NA
  NA
  82944293
  82952227
  7935
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13327.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  77567625
  77569546
  1922
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 digregorio_17_DD/ID_discovery_cases-DECIPHER_299788
 qPCR
 
 De novo
 
 
 HNRNPH3P1,HK2P1,CHMP1B2P,TENT5D,BRWD3
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_299920
 
 
 Maternal
 
 
 CTHRC1P1,KIF4CP,ITM2A,GPR174
 
 engchuan_15_ASD_discovery_cases-case13083_973
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case1376_301
 
 
 Unknown
 
 
 RNU6-854P,RN7SL460P,MAGT1
 
 engchuan_15_ASD_discovery_cases-case14088_1520
 
 
 Unknown
 
 
 SH3BGRL
 
 engchuan_15_ASD_discovery_cases-case6260_3
 
 
 Unknown
 
 
 RNA5SP509
 
 gazzellone_14_ASD_discovery_cases-case517-3
 
 
 Unknown
 Unknown
 Unknown
 
 
 gazzellone_14_ASD_discovery_cases-case610-3
 
 
 Unknown
 Unknown
 Unknown
 
 
 giovenino_23_DD/ID_discovery_cases-caseFam236-II:1
 Sanger sequencing
 
 Maternal
 Simplex
 
 ATRX
 
 han_22_ASD/DD/ID_discovery_cases-case17D272
 
 
 Unknown
 
 
 ATRX,ATP7A,COX7B,TAF9B,MAGT1,PGAM4,FNDC3CP,FABP5P15,PGK1,RN7SL460P,RNU6-854P,CYSLTR1
 
 iourov_12_ASD/ID/EP_discovery_cases-case41
 
 
 Unknown
 Unknown
 Unknown
 TBCAP1,DMD
 
 iourov_12_ASD/ID/EP_discovery_cases-case50
 
 
 Unknown
 Unknown
 Unknown
 FABP5P15,ATRX
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000120
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 PGAM4,ATP7A,PGK1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000409
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-854P,RN7SL460P,PGAM4,HMGN1P34,UBE2V1P7,RTL3,COX7B,TAF9B,FNDC3CP,CYSLTR1,MAGT1,ATP7A,PGK1,ATRX
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000834
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 FGF16,ATRX
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001676
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 BRWD3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001937
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RNU6-854P,RN7SL460P,PGAM4,COX7B,TAF9B,FNDC3CP,CYSLTR1,MAGT1,ATP7A,PGK1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001983
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RNU6-854P,MAGT1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002326
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 RNU6-854P,MAGT1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002753
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 ITM2A
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004501
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 ATRX
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004539
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 FGF16,FABP5P15,ATRX
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004556
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-854P,RN7SL460P,COX7B,MAGT1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004612
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-493P,VDAC1P1,RNU6-995P,HMGN5,SH3BGRL,BRWD3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005193
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPL22P22,ATG4AP1,TERF1P4,POU3F4,CYLC1
 
 krumm_15_ASD_discovery_cases-case12492.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 MIR548I4,RPS6KA6,HDX
 
 krumm_15_ASD_discovery_cases-case13647.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 RNU6-854P,MAGT1
 
 mosca_16_DCD_discovery_cases-case117803
 
 
 Unknown
 Unknown
 Unknown
 APOOL,UBE2DNL
 
 mosca_16_DCD_discovery_cases-case125603
 
 
 Unknown
 Multi-generational
 Unknown
 RNU6-974P
 
 pinto_10_ASD_discovery_cases-case6379_4
 qPCR
 
 maternal
 Simplex
 NA
 MAGT1 exonic
 
 prasad_12_ASD_discovery_cases-case100564
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case139459L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case56040
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case88032
 
 
 Unknown
 Simplex
 Unknown
 0 genes
 
 qiao_12_ASD_discovery_cases-case05-60
 
 
 Unknown
 Unknown
 Unknown
 MAGT1,COX7B,ATP7A,PGAM4
 
 sanders_11_ASD_discovery_cases-11047.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11052.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11086.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11296.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11475.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11555.p1
 
 
 Both parents
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11580.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11839.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11846.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11879.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CHMP1B2P
 
 sanders_11_ASD_discovery_cases-12243.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12261.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12492.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 MIR548I4,SETP4,RPS6KA6,HDX
 
 sanders_11_ASD_discovery_cases-12524.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12626.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12748.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12828.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13136.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13222.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 MIR384,MIR325HG
 
 sansovic_17_DD/ID/ASD_discovery_cases-case104
 
 
 Unknown
 
 
 HNRNPH3P1,HK2P1,BRWD3
 
 sansovic_17_DD/ID/ASD_discovery_cases-case82
 
 
 Unknown
 
 
 MAGT1
 
 tzetis_12_DD/ID_discovery_cases-case84
 
 
 Unknown
 Unknown
 
 RNU6-974P,RPL22P22,ATG4AP1,TERF1P4,POU3F4
 
 willemsen_12_DD/ID_discovery_cases-case54
 
 
 Maternal
 
 
 SPRYD7P1,FGF16,FABP5P15,RNU6-854P,RN7SL460P,PGAM4,COX7B,TAF9B,FNDC3CP,MAGT1,ATP7A,PGK1,ATRX
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB264851_1007876013
 
 
  Unknown
 
 
  APOOL,UBE2DNL
 
engchuan_15_ASD_discovery_controls-controlB521946_1007854330
 
 
  Unknown
 
 
  RNU6-854P,RN7SL460P,MAGT1
 
engchuan_15_ASD_discovery_controls-controlB680984_1007873423
 
 
  Unknown
 
 
  RNU6-854P,RN7SL460P,MAGT1
 
engchuan_15_ASD_discovery_controls-controlHABC_900090_900090
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900366_900366
 
 
  Unknown
 
 
  RNU6-854P,RN7SL460P,MAGT1,ATRX
 
krumm_15_ASD_discovery_controls-control12492.s1
  Illumina 1MDuo
 
  Maternal
 
 
  MIR548I4,RPS6KA6,HDX
 
krumm_15_ASD_discovery_controls-control12871.s1
  Illumina 1MDuo
 
  Paternal
 
 
  MIR384,MIR325,RNA5SP509,SPRYD7P1,FGF16,MIR325HG,ATRX
 
nord_11_ASD_discovery_controls-04C26509
 
 
 
 
 
  0 genes
 
nord_11_ASD_discovery_controls-04C28226
 
 
 
 
 
  0 genes
 
sanders_11_ASD_discovery_controls-11033.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11086.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11360.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11554.s1
 
 
  Unknown
  Simplex (quad)
  NA
  CYSLTR1
 
sanders_11_ASD_discovery_controls-11554.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11580.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11667.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU6-854P,RN7SL460P,MAGT1
 
sanders_11_ASD_discovery_controls-11723.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11731.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11753.s1
 
 
  Both parents
  Simplex (quad)
  NA
  MIR384,MIR325HG
 
sanders_11_ASD_discovery_controls-11979.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12154.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12231.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12370.s1
 
 
  Both parents
  Simplex (quad)
  NA
  MIR384,MIR325HG
 
sanders_11_ASD_discovery_controls-12375.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12492.s1
 
 
  Unknown
  Simplex (quad)
  NA
  MIR548I4,SETP4,RPS6KA6,HDX
 
sanders_11_ASD_discovery_controls-12524.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12748.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12962.s1
 
 
  Both parents
  Simplex (quad)
  NA
  MIR384,MIR325HG
 
sanders_11_ASD_discovery_controls-13222.s1
 
 
  Both parents
  Simplex (quad)
  NA
  MIR384,MIR325HG
 
sanders_11_ASD_discovery_controls-13303.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13327.s1
 
 
  Both parents
  Simplex (quad)
  NA
  ATRX
 

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