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1p13.2CNV Type: Deletion-Duplication


Largest CNV size: 182514 bp

Statistics Box:
Number of Reports: 13


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...
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
NA
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_replication_cases
 Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
 1979
 Cases diagnosed with ASD
 N/A
 N/A
 2261
 1
 0
 1
 celestino-soper_11_ASD_discovery_cases
 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
 99
 ASD
 
 87.88% Male
 528
 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
 560833
 3
 4
 7
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 948000
 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
 1322656
 0
 2
 2
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 676764
 1
 1
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 676764
 1
 0
 1
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 340000
 0
 1
 1
 pfundt_16_NDD_discovery_cases
 Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
 1215
 Neurodevelopmental disorders
 N/A
 N/A
 325802
 1
 0
 1
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 182514
 0
 1
 1
 pinto_14_ASD_discovery_cases
 ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
 1359
 Cases classified according to ADOS and ADI-R
 N/A
 N/A
 32939
 0
 1
 1
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 83724
 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
 17352
 21
 0
 21

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_replication_controls
 Unaffected individuals from the Simons Simplex 2 (SSC2) cohort (584 controls from simplex quad families)
 584
 Control (unaffected siblings from simplex quad families)
 N/A
 N/A
 2261
 1
 0
 1
 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
 479830
 2
 3
 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
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 3389
 3
 0
 3
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 19786
 0
 2
 2
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 19245
 1
 0
 1
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 15422
 1
 1
 2
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 57957
 10
 1
 11

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brandler_18_ASD_replication_cases
  N/A
 WGS
  Illumina HiSeq X10
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 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_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 pfundt_16_NDD_discovery_cases
  N/A
 WES
  Solid5500xl, IlluminaHiSeq2000
 
 CoNIFER
 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)
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  brandler_18_ASD_replication_controls
  N/A
  WGS
  Illumina HiSeq X10
  ForestSV, Lumpy, Manta, Mobster, SV2
 
  None
  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
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  qPCR
  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
  brandler_18_ASD_replication_cases-caseSSC07006
 N/A
 M
 ASD
 Case from SSC_phase2 cohort
 
 114741219
 114743479
  2261
 GRCh38
 Deletion
 No
  celestino-soper_11_ASD_discovery_cases-11455
 NA
 M
 ASD
 NA
 NA
 113390742
 113391270
  529
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14268_3910
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 111384821
 111415071
  30251
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case16053_1571164001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 111482459
 111593336
  110878
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20183_1707001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 112659795
 113093538
  433744
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3026_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 112712767
 112905183
  192417
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3429_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 112648185
 113209018
  560834
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5366_5
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 111384542
 111415071
  30530
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5455_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 112788636
 112971149
  182514
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-13346.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 112025855
 112975855
  950001
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000121
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 112687324
 113216458
  529135
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001140
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 112147402
 113470058
  1322657
 GRCh38
 Duplication
 Yes
  krumm_13_ASD_discovery_cases-case13346.p1
 N/A
 F
 ASD
 ASD proband from SSC quad family 13346. SRS score of 84.
 Full-scale IQ (FSIQ) score of 59.
 112252544
 112929308
  676765
 GRCh38
 Deletion
 Yes
  krumm_13_ASD_discovery_cases-case13601.p1
 N/A
 F
 ASD
 ASD proband from SSC quad family 13601. SRS score of 85.
 Full-scale IQ (FSIQ) score of 78.
 114774270
 114780607
  6338
 GRCh38
 Duplication
 No (not tested)
  krumm_15_ASD_discovery_cases-case13346.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 112252544
 112929308
  676765
 GRCh38
 Deletion
 Yes
  maini_18_ASD/DD/ID_discovery_cases-case_unknown84
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
 
 112940506
 113282551
  342046
 GRCh38
 Duplication
 No
  pfundt_16_NDD_discovery_cases-case135
 N/A
 N/A
 NDD
 Disease cohort: neurodevelopmental disorder. Description: AP4B1 deletion
 
 113653829
 113979631
  325803
 GRCh38
 Deletion
 No
  pinto_10_ASD_discovery_cases-case5455_3
 NA
 M
 ASD
 NA
 NA
 112788636
 112971149
  182514
 GRCh38
 Duplication
 Yes
  pinto_14_ASD_discovery_cases2-case20111_1517001
 N/A
 M
 ASD
 Clinical profile: N/A.
 Cognitive profile: N/A.
 111449521
 111482459
  32939
 GRCh38
 Duplication
 Yes
  poultney_13_ASD_discovery_cases-caseHI4750
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1648302; NDAR ID NDAR_INVRY057WMU)
 
 114860734
 114944457
  83724
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11176.p1
 12.5
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 117; verbal IQ, 144
 111285127
 111294513
  9387
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11198.p1
 11.9
 M
 Autism
 NA
 Full-scale IQ, 120; non-verbal IQ, 115; verbal IQ, 123
 111386673
 111391682
  5010
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11199.p1
 10.6
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 94; verbal IQ, 81
 111386673
 111391682
  5010
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11247.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 118
 111386673
 111391682
  5010
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11323.p1
 8.6
 F
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 114; verbal IQ, 98
 111386673
 111391682
  5010
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11425.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 103; non-verbal IQ, 104; verbal IQ, 102
 114857120
 114874472
  17353
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11491.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 63; verbal IQ, 44
 111386673
 111391682
  5010
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11518.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 13
 111386673
 111391682
  5010
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11552.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 92
 111386673
 111393760
  7088
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11557.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
 111386673
 111391682
  5010
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11653.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 44; verbal IQ, 28
 111386673
 111391682
  5010
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11696.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 95; non-verbal IQ, 94; verbal IQ, 98
 111386673
 111391682
  5010
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11707.p1
 13.5
 M
 Autism
 NA
 Full-scale IQ, 19; non-verbal IQ, 23; verbal IQ, 16
 111413851
 111416263
  2413
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11869.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 104; verbal IQ, 86
 111386673
 111391682
  5010
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12600.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 69
 111286873
 111289996
  3124
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12923.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 100; verbal IQ, 87
 111386673
 111391682
  5010
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12989.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 83; verbal IQ, 88
 111386673
 111391682
  5010
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13039.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 135; verbal IQ, 93
 111286873
 111289996
  3124
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13095.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 29; non-verbal IQ, 32; verbal IQ, 25
 111386673
 111391682
  5010
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13174.p1
 10
 M
 Aspergers
 NA
 Full-scale IQ, 106; non-verbal IQ, 93; verbal IQ, 126
 111386673
 111391682
  5010
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13303.p1
 5.6
 F
 ASD
 NA
 Full-scale IQ, 101; non-verbal IQ, 107; verbal IQ, 90
 113481726
 113497091
  15366
 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
  brandler_18_ASD_replication_controls-controlSSC07010
  N/A
  F
  control
  Control from SSC_phase2 cohort
 
  114741219
  114743479
  2261
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB534162_1007840930
  N/A
  N/A
  Control
  No previous psychiatric history
 
  111384542
  111418185
  33644
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB877576_1007874042
  N/A
  N/A
  Control
  No previous psychiatric history
 
  111350283
  111393760
  43478
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900246_900246
  N/A
  N/A
  Control
  No previous psychiatric history
 
  112788512
  113268342
  479831
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902575_902575
  N/A
  N/A
  Control
  No previous psychiatric history
 
  112670384
  112770941
  100558
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902575_902575
  N/A
  N/A
  Control
  No previous psychiatric history
 
  112820055
  113133864
  313810
  GRCh38
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split2103
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  111930916
  111934304
  3389
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split2119
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  111930916
  111934304
  3389
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split286
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  111930916
  111934304
  3389
  Unknown
  Deletion
  No
  krumm_13_ASD_discovery_controls-control13296.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 13296. SRS score of 40.
 
  112702562
  112722348
  19787
  GRCh38
  Duplication
  Yes
  krumm_13_ASD_discovery_controls-control13601.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 13601. SRS score of 40.
 
  114774270
  114780215
  5946
  GRCh38
  Duplication
  No (not tested)
  krumm_15_ASD_discovery_controls-control14283.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  113091317
  113110562
  19246
  GRCh38
  Deletion
  Yes
  poultney_13_ASD_discovery_controls-control05C40900A
  N/A
  M
  Control
  NIMH Control (NIMH ID 87841)
 
  112913889
  112929310
  15422
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C44567
  N/A
  M
  Control
  NIMH Control (NIMH ID 29052)
 
  114673112
  114676005
  2894
  GRCh38
  Deletion
  Yes
  sanders_11_ASD_discovery_controls-11085.s1
  8.5
  F
  Control (matched sibling)
  NA
  NA
  111386673
  111391682
  5010
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11198.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  111386673
  111393760
  7088
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11199.s1
  13.6
  M
  Control (matched sibling)
  NA
  NA
  111386673
  111391682
  5010
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11258.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  111386673
  111391682
  5010
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11518.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  111386673
  111391682
  5010
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11557.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  111386673
  111393760
  7088
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11610.s1
  9.4
  M
  Control (matched sibling)
  NA
  NA
  111263948
  111321905
  57958
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11696.s1
  16.8
  M
  Control (matched sibling)
  NA
  NA
  111384542
  111391682
  7141
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12631.s1
  18.8
  M
  Control (matched sibling)
  NA
  NA
  111386673
  111391682
  5010
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13039.s1
  4.5
  M
  Control (matched sibling)
  NA
  NA
  111286873
  111289996
  3124
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13174.s1
  12.8
  M
  Control (matched sibling)
  NA
  NA
  111386673
  111391682
  5010
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_replication_cases-caseSSC07006
 No validation step reported
 
 Paternal
 
 
 CSDE1
 
 celestino-soper_11_ASD_discovery_cases-11455
 
 
 Unknown
 Simplex
 NA
 MAGI3
 
 engchuan_15_ASD_discovery_cases-case14268_3910
 
 
 Unknown
 
 
 PGCP1,OVGP1
 
 engchuan_15_ASD_discovery_cases-case16053_1571164001
 
 
 Unknown
 
 
 RNU6-792P,ADORA3,TMIGD3,RAP1A
 
 engchuan_15_ASD_discovery_cases-case20183_1707001
 
 
 Unknown
 
 
 PPM1J,NUTF2P4,AKR7A2P1,CAPZA1,MOV10,RHOC,LINC01356,SLC16A1,FAM19A3,SLC16A1-AS1,LRIG2
 
 engchuan_15_ASD_discovery_cases-case3026_4
 
 
 Unknown
 
 
 PPM1J,NUTF2P4,LINC01356,FAM19A3
 
 engchuan_15_ASD_discovery_cases-case3429_3
 
 
 Unknown
 
 
 PPM1J,NUTF2P4,AKR7A2P1,RLIMP2,CAPZA1,MOV10,RHOC,LINC01356,SLC16A1,FAM19A3,SLC16A1-AS1,LRIG2
 
 engchuan_15_ASD_discovery_cases-case5366_5
 
 
 Unknown
 
 
 PGCP1,OVGP1
 
 engchuan_15_ASD_discovery_cases-case5455_3
 
 
 Unknown
 
 
 AKR7A2P1,LINC01356,SLC16A1,SLC16A1-AS1
 
 girirajan_13a_ASD_discovery_cases-13346.p1
 
 
 Unknown
 Simplex
 Unknown
 TXNP3,MIR4256,MRPL53P1,RNU7-70P,PPM1J,NUTF2P4,AKR7A2P1,WNT2B,CAPZA1,MOV10,RHOC,LINC01356,SLC16A1,CTTNBP2NL,ST7L,FAM19A3,SLC16A1-AS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000121
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 PPM1J,NUTF2P4,AKR7A2P1,RLIMP2,MOV10,RHOC,LINC01356,SLC16A1,FAM19A3,SLC16A1-AS1,LRIG2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001140
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TXNP3,MIR4256,MRPL53P1,RNU7-70P,PPM1J,NUTF2P4,AKR7A2P1,RLIMP2,WNT2B,CAPZA1,MOV10,RHOC,LINC01356,SLC16A1,CTTNBP2NL,ST7L,FAM19A3,SLC16A1-AS1,LRIG2,MAGI3
 
 krumm_13_ASD_discovery_cases-case13346.p1
 Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
 
 De novo
 Simplex
 Segregated
 TXNP3,MIR4256,MRPL53P1,RNU7-70P,PPM1J,NUTF2P4,AKR7A2P1,WNT2B,CAPZA1,MOV10,RHOC,LINC01356,SLC16A1,CTTNBP2NL,ST7L,FAM19A3
 
 krumm_13_ASD_discovery_cases-case13601.p1
 
 
 Paternal
 Simplex
 Not segregated
 SIKE1
 
 krumm_15_ASD_discovery_cases-case13346.p1
 1M-Duov3
 
 De novo
 Simplex
 Segregated
 TXNP3,MIR4256,MRPL53P1,RNU7-70P,PPM1J,NUTF2P4,AKR7A2P1,WNT2B,CAPZA1,MOV10,RHOC,LINC01356,SLC16A1,CTTNBP2NL,ST7L,FAM19A3
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown84
 
 
 Maternal
 Unknown
 Unknown
 RLIMP2,SLC16A1,SLC16A1-AS1,LRIG2
 
 pfundt_16_NDD_discovery_cases-case135
 
 
 
 
 
 DCLRE1B,HIPK1-AS1,PHTF1,PTPN22,AP4B1-AS1,BCL2L15,HIPK1,MAGI3,RSBN1,AP4B1,OLFML3
 
 pinto_10_ASD_discovery_cases-case5455_3
 Agilent1M
 
 paternal
 NA
 NA
 AKR7A2P1,LINC01356,SLC16A1,SLC16A1-AS1
 
 pinto_14_ASD_discovery_cases2-case20111_1517001
 qPCR
 
 Paternal
 Multiplex
 Not segregated (no CNV in affected sibling)
 ATP5PB,C1orf162
 
 poultney_13_ASD_discovery_cases-caseHI4750
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 SYCP1
 
 sanders_11_ASD_discovery_cases-11176.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CHIA,CHIAP2
 
 sanders_11_ASD_discovery_cases-11198.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PGCP1
 
 sanders_11_ASD_discovery_cases-11199.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PGCP1
 
 sanders_11_ASD_discovery_cases-11247.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PGCP1
 
 sanders_11_ASD_discovery_cases-11323.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PGCP1
 
 sanders_11_ASD_discovery_cases-11425.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 SYCP1
 
 sanders_11_ASD_discovery_cases-11491.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PGCP1
 
 sanders_11_ASD_discovery_cases-11518.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PGCP1
 
 sanders_11_ASD_discovery_cases-11552.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PGCP1
 
 sanders_11_ASD_discovery_cases-11557.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PGCP1
 
 sanders_11_ASD_discovery_cases-11653.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PGCP1
 
 sanders_11_ASD_discovery_cases-11696.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PGCP1
 
 sanders_11_ASD_discovery_cases-11707.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 OVGP1
 
 sanders_11_ASD_discovery_cases-11869.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PGCP1
 
 sanders_11_ASD_discovery_cases-12600.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12923.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PGCP1
 
 sanders_11_ASD_discovery_cases-12989.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PGCP1
 
 sanders_11_ASD_discovery_cases-13039.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13095.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 PGCP1
 
 sanders_11_ASD_discovery_cases-13174.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 PGCP1
 
 sanders_11_ASD_discovery_cases-13303.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 MAGI3
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_controls-controlSSC07010
  No validation step reported
 
  Paternal
 
 
  CSDE1
 
engchuan_15_ASD_discovery_controls-controlB534162_1007840930
 
 
  Unknown
 
 
  PGCP1,OVGP1
 
engchuan_15_ASD_discovery_controls-controlB877576_1007874042
 
 
  Unknown
 
 
  PIFO,HIGD1AP12,PGCP1,CHIAP3
 
engchuan_15_ASD_discovery_controls-controlHABC_900246_900246
 
 
  Unknown
 
 
  AKR7A2P1,RLIMP2,LINC01356,SLC16A1,SLC16A1-AS1,LRIG2
 
engchuan_15_ASD_discovery_controls-controlHABC_902575_902575
 
 
  Unknown
 
 
  PPM1J,NUTF2P4,CAPZA1,MOV10,RHOC,FAM19A3
 
engchuan_15_ASD_discovery_controls-controlHABC_902575_902575
 
 
  Unknown
 
 
  AKR7A2P1,RLIMP2,LINC01356,SLC16A1,SLC16A1-AS1,LRIG2
 
kanduri_15_ASD_discovery_controls-control_split2103
 
 
  Unknown
 
 
  PGCP1 (non-coding RNA, exonic)
 
kanduri_15_ASD_discovery_controls-control_split2119
 
 
  Unknown
 
 
  PGCP1 (non-coding RNA, exonic)
 
kanduri_15_ASD_discovery_controls-control_split286
 
 
  Unknown
 
 
  PGCP1 (non-coding RNA, exonic)
 
krumm_13_ASD_discovery_controls-control13296.s1
  aCGH (Agilent SurePrint G3 4x180K)
 
  Paternal
  Simplex
 
  PPM1J,RHOC,FAM19A3
 
krumm_13_ASD_discovery_controls-control13601.s1
 
 
  Paternal
  Simplex
 
  SIKE1
 
krumm_15_ASD_discovery_controls-control14283.s1
  Omni2.5-4v1
 
  Maternal
 
 
  LRIG2
 
poultney_13_ASD_discovery_controls-control05C40900A
 
 
  Unknown
 
 
  AKR7A2P1,SLC16A1
 
poultney_13_ASD_discovery_controls-control05C44567
  qPCR
 
  Unknown
 
 
  AMPD1
 
sanders_11_ASD_discovery_controls-11085.s1
 
 
  Maternal
  Simplex (quad)
  NA
  PGCP1
 
sanders_11_ASD_discovery_controls-11198.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PGCP1
 
sanders_11_ASD_discovery_controls-11199.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PGCP1
 
sanders_11_ASD_discovery_controls-11258.s1
 
 
  Maternal
  Simplex (quad)
  NA
  PGCP1
 
sanders_11_ASD_discovery_controls-11518.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PGCP1
 
sanders_11_ASD_discovery_controls-11557.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PGCP1
 
sanders_11_ASD_discovery_controls-11610.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CHIA,CHIAP2
 
sanders_11_ASD_discovery_controls-11696.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PGCP1
 
sanders_11_ASD_discovery_controls-12631.s1
 
 
  Maternal
  Simplex (quad)
  NA
  PGCP1
 
sanders_11_ASD_discovery_controls-13039.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13174.s1
 
 
  Both parents
  Simplex (quad)
  NA
  PGCP1
 

No Animal Model Data Available
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