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1p34.1CNV Type: Deletion-Duplication


Largest CNV size: 145252 bp

Statistics Box:
Number of Reports: 16


Summary Information

Summary statement in development

Additional Locus Information

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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
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Excess of rare, inherited truncating mutations in autism.
Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
NA
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
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
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.
Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Deletion
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 costa_21_ASD_discovery_cases
  NA NA
 ASD probands referred to the Centro de Estudos sobre o Genoma Humano e Celulas-tronco (CEGH-CEL, Instituto de Biociencias (IB), Universidade de Sao Paulo, USP) between 2009 and 2018.
 144
 Cases diagnosed with ASD by psychiatrists or neurologists based on the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV or DSM-5.
 Range, 1-34 yrs. (mean, 7.7 yrs.)
 77.08% Male
 95585
 0
 1
 1
 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
 113000
 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
 465477
 0
 5
 5
 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
 569062
 1
 4
 5
 kanduri_15_ASD_discovery_cases
 Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
 80
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
 N/A
 N/A
 93693
 0
 1
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 75931
 0
 2
 2
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 123371
 1
 0
 1
 mosca_16_DCD_discovery_cases
 Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
 82
 All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
 Range, 8-17 years (Mean, 10.06 2.92 yrs.)
 N/A
 106423
 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
 
 
 145252
 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)
 118232
 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
 149540
 1
 1
 2
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 239796
 0
 2
 2
 salyakina_11_ASD_discovery_cases
 ASD patients from extended ASD families (defined as families with at least two affected cousins)
 97
 ASD. Inclusion criteria: (1) age between 3 and 21 yrs of age; (2) presumptive clinical diagnosis of ASD; (3) diagnosis determined using DSM-IV criteria supported by ADI-R; (4) IQ > 35 or developmental level >18 months as described by VABS
 Range, 3-21 yrs.
 
 2684
 2
 0
 2
 salyakina_11_nonASD_discovery_cases
 Individuals from extended ASD families with ASD symptoms/autistic features, but who did not meet full criteria for ASD diagnosis
 NA
 Diagnosed with ASD symptoms, but did not meet full criteria for ASD diagnosis
 
 
 2684
 1
 0
 1
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 9295
 13
 0
 13
 wenger_16_ASD_discovery_cases
 ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
 62
 ASD
 N/A
 N/A
 149289
 1
 0
 1
 zhang_24_ASD_discovery_cases
 ASD proband from the Tianjin General Hospital/CHOP database with a de novo 1p34.1 microdeletion affecting the NASP gene.
 1
 Case diagnosed with ASD according to DSM-5 criteria.
 
 
 250852
 1
 0
 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
 221243
 1
 1
 2
 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
 9758
 0
 1
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 0
 0
 0
 0
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 0
 0
 0
 0
 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)
 0
 0
 0
 0
 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)
 149540
 0
 0
 0
 salyakina_11_ASD_discovery_controls
 Pediatric control samples recruited by Hussman Institute for Human Genomics (HHIG, Univ. of Miami) and Centennial Medical Center (Nashville, TN) as part of preterm birth study (Nashville Borth Cohort, NBC)
 838
 Controls. Exclusion criteria: participants, or those with first degree relatives, with developmental, behavioral, or neurological conditions
 
 
 2684
 12
 0
 12
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 285483
 8
 1
 9

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 costa_21_ASD_discovery_cases
  Brazil
 aCGH
  Agilent 180K
 NA
 Agilent Genomic Workbench
 aCGH (Agilent 180K)
 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
 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
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 mosca_16_DCD_discovery_cases
  Canada
 Solid phase hybridization
  Illumina HumanOmni2.5-Quad BeadChip
 iPattern, PennCNV, QuantiSNP, CNVPartition
 
 qPCR
 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)
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 qPCR
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 qPCR
 salyakina_11_ASD_discovery_cases
 
 Solid phase hybridization
  Illumina Human 1Mv1_C BeadChip or Illumina 1M-DuoV3 BeadChip
 PennCNV
 BeadStudio v3
 qPCR
 salyakina_11_nonASD_discovery_cases
 
 Solid phase hybridization
  Illumina Human 1Mv1_C BeadChip or Illumina 1M-DuoV3 BeadChip
 PennCNV
 BeadStudio v3
 qPCR
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 wenger_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina HumanHap 550 or Illumina Human610-Quad v1.0
 PennCNV
 
 None
 zhang_24_ASD_discovery_cases
  China
 
 
 
 
 

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
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  None
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
 
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  salyakina_11_ASD_discovery_controls
  727 Caucasian, 111 African-American
 
 
 
 
 
  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
  costa_21_ASD_discovery_cases-caseP130
  NA NA
 NA
 M
 ASD and developmental delay
 Case diagnosed with ASD based on DSM-IV or DSM-5 criteria. Additional clinical features: echolalia, delayed speech, food allergy and selectivity.
 
 46129713
 46225297
  95585
 GRCh38
 Duplication
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_299799
  NA NA
 N/A
 F
 Cognitive impairment
 Facial dysmorphic features, proportionate short stature. Mother is affected with a similar or milder phenotype.
 Cognitive impairment
 46184970
 46298350
  113381
 GRCh38
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case20092_1408001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 44457801
 44740823
  283023
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3621_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 45635651
 45706390
  70740
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5412_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 43967357
 44000934
  33578
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5522_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 45736405
 45881656
  145252
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6002_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 45651513
 46116990
  465478
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001035
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 45440264
 45869574
  429311
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001083
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 44713837
 45282899
  569063
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002363
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 44838131
 44841480
  3350
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002527
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 45402871
 45603348
  200478
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004296
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 44713837
 45282899
  569063
 GRCh38
 Duplication
 Yes
  kanduri_15_ASD_discovery_cases-case3035
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 46248645
 46342337
  93693
 Unknown
 Duplication
 No
  krumm_15_ASD_discovery_cases-case13210.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 45566568
 45642499
  75932
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14258.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 45618060
 45630606
  12547
 GRCh38
 Duplication
 Yes
  levy_11_ASD_discovery_cases-11705.p1
 NA
 M
 ASD
 NA
 NA
 45350357
 45473727
  123371
 GRCh38
 Deletion
 No
  mosca_16_DCD_discovery_cases-case128203
 N/A
 M
 DCD
 Ancestry: European. Family history: maternal diagnosis DCD, ADHD and reading disorder; paternal diagnosis reading disorder.
 
 44601666
 44708088
  106423
 GRCh38
 Duplication
 Yes
  mosca_16_DCD_discovery_cases-case128203
 N/A
 M
 DCD
 Ancestry: European. Family history: maternal diagnosis DCD, ADHD and reading disorder; paternal diagnosis reading disorder.
 
 44482596
 44580561
  97966
 GRCh38
 Duplication
 No
  pinto_10_ASD_discovery_cases-case5522_4
 NA
 F
 ASD
 NA
 NA
 45736405
 45881656
  145252
 GRCh38
 Duplication
 Yes
  poultney_13_ASD_discovery_cases-case05HI3678A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1224302; NDAR ID NDAR_INVAU544BA5)
 
 45959384
 46077615
  118232
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case100679L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 45974406
 46123945
  149540
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case94073
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 45759003
 45768207
  9205
 Unknown
 Deletion
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1007-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: no.
 45770426
 45959828
  189403
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1412-0
 N/A
 N/A
 ACC-CBLH-PMG
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG). ASD: unknown. Seizures: yes.
 Developmental delay: yes. Intellectual disability: unknown.
 45757414
 45997209
  239796
 GRCh38
 Duplication
 Yes
  salyakina_11_ASD_discovery_cases-17545_001
 
 M
 Autism
 Possible Angelmans Syndrome, Tourettes
 
 45170130
 45172814
  2685
 GRCh38
 Deletion
 Yes
  salyakina_11_ASD_discovery_cases-17545_100
 
 M
 Autism
 Macrocephaly
 
 45170130
 45172814
  2685
 GRCh38
 Deletion
 Yes
  salyakina_11_nonASD_discovery_cases-17545_103
 
 F
 Developmental delay
 ASD symptoms. Depression. Macrocephaly.
 Developmental delay
 45170130
 45172814
  2685
 GRCh38
 Deletion
 Yes
  sanders_11_ASD_discovery_cases-11161.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 74; verbal IQ, 59
 45170130
 45179425
  9296
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11194.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 88; verbal IQ, 98
 45170130
 45172814
  2685
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11200.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 135; non-verbal IQ, 128; verbal IQ, 134
 45170130
 45172814
  2685
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11250.p1
 14.8
 M
 Autism
 NA
 Full-scale IQ, 103; non-verbal IQ, 124; verbal IQ, 86
 45170130
 45172814
  2685
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11364.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 106; verbal IQ, 104
 45170130
 45172814
  2685
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11578.p1
 5.1
 M
 ASD
 NA
 Full-scale IQ, 120; non-verbal IQ, 120; verbal IQ, 115
 45170130
 45172814
  2685
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11600.p1
 14.8
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 112; verbal IQ, 99
 45170130
 45179425
  9296
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11720.p1
 8
 M
 ASD
 NA
 Full-scale IQ, 68; non-verbal IQ, 82; verbal IQ, 51
 45170130
 45179425
  9296
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12233.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 99
 45170130
 45179425
  9296
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12368.p1
 10.2
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 50; verbal IQ, 40
 45170130
 45179425
  9296
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12536.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 90; verbal IQ, 81
 45170130
 45179425
  9296
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12704.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 106
 45170130
 45179425
  9296
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13007.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 107; verbal IQ, 67
 45170130
 45179425
  9296
 GRCh38
 Deletion
 No
  wenger_16_ASD_discovery_cases-case34
 N/A
 N/A
 ASD
 Prior clinical diagnosis of genetic syndrome: n/a
 
 45470679
 45619967
  149289
 GRCh38
 Deletion
 No
  zhang_24_ASD_discovery_cases-case2
 
 
 ASD
 Case diagnosed with ASD according to DSM-5 criteria.
 
 45525407
 45776258
  250852
 GRCh38
 Deletion
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-controlHABC_900569_900569
  N/A
  N/A
  Control
  No previous psychiatric history
 
  45439417
  45499094
  59678
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902493_902493
  N/A
  N/A
  Control
  No previous psychiatric history
 
  45775966
  45997209
  221244
  GRCh38
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1297
  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
 
  46493460
  46503217
  9758
  Unknown
  Duplication
  No
  sanders_11_ASD_discovery_controls-11161.s1
  9.3
  F
  Control (matched sibling)
  NA
  NA
  45170130
  45179425
  9296
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11194.s1
  10.7
  M
  Control (matched sibling)
  NA
  NA
  45170130
  45172814
  2685
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11501.s1
  13.4
  M
  Control (matched sibling)
  NA
  NA
  45170130
  45172814
  2685
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11843.s1
  16.9
  F
  Control (matched sibling)
  NA
  NA
  45170130
  45179425
  9296
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12368.s1
  7.2
  M
  Control (matched sibling)
  NA
  NA
  45170130
  45179425
  9296
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12681.s1
  12.8
  F
  Control (matched sibling)
  NA
  NA
  45736405
  46021888
  285484
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12704.s1
  6.4
  F
  Control (matched sibling)
  NA
  NA
  45170130
  45179425
  9296
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12715.s1
  4.2
  F
  Control (matched sibling)
  NA
  NA
  45170130
  45179425
  9296
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13036.s1
  10.2
  F
  Control (matched sibling)
  NA
  NA
  45170130
  45179425
  9296
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 costa_21_ASD_discovery_cases-caseP130
 aCGH (Agilent 180K)
 
 De novo
 
 
 POMGNT1,LURAP1,P3R3URF,P3R3URF-PIK3R3,PIK3R3,TSPAN1
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_299799
 qPCR
 Maternal
 Maternal
 Multi-generational
 
 TSPAN1,POMGNT1,LURAP1,RAD54L,LRRC41
 
 engchuan_15_ASD_discovery_cases-case20092_1408001
 
 
 Unknown
 
 
 MIR5584,RNU5F-1,RNU5D-1,TMEM53,KIF2C,RNF220,ARMH1
 
 engchuan_15_ASD_discovery_cases-case3621_4
 
 
 Unknown
 
 
 TMEM69,GPBP1L1,RPS15AP10,IPP
 
 engchuan_15_ASD_discovery_cases-case5412_3
 
 
 Unknown
 
 
 DPH2,CCDC24,IPO13,ATP6V0B,B4GALT2,SLC6A9
 
 engchuan_15_ASD_discovery_cases-case5522_4
 
 
 Unknown
 
 
 TMA16P2,IPP,MAST2
 
 engchuan_15_ASD_discovery_cases-case6002_4
 
 
 Unknown
 
 
 TMEM69,TMA16P2,GPBP1L1,PIK3R3,IPP,MAST2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001035
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 MMACHC,CCDC17,TMEM69,TMA16P2,CCDC163,PRDX1,HMGB1P48,AKR1A1,GPBP1L1,RPS15AP10,TESK2,NASP,IPP,MAST2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001083
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU5F-1,RNU5D-1,SNORD55,SNORD46,SNORD38A,SNORD38B,RPS15AP11,BEST4,PLK3,TCTEX1D4,RNU5E-6P,RNA5SP47,CCNB1IP1P1,PPIAP35,UROD,OSTCP5,KIF2C,RPS8,BTBD19,MRPS17P1,HECTD3,ARMH1,PTCH2,EIF2B3,ZSWIM5
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002363
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 PTCH2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002527
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 PPIAP36,MMACHC,CCDC163,PRDX1,HMGB1P48,AKR1A1,TESK2,NASP
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004296
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 RNU5F-1,RNU5D-1,SNORD55,SNORD46,SNORD38A,SNORD38B,RPS15AP11,BEST4,PLK3,TCTEX1D4,RNU5E-6P,RNA5SP47,CCNB1IP1P1,PPIAP35,UROD,OSTCP5,KIF2C,RPS8,BTBD19,MRPS17P1,HECTD3,ARMH1,PTCH2,EIF2B3,ZSWIM5
 
 kanduri_15_ASD_discovery_cases-case3035
 
 
 Maternal
 Unknown
 Unknown
 MAST2
 
 krumm_15_ASD_discovery_cases-case13210.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 CCDC17,AKR1A1,GPBP1L1,NASP
 
 krumm_15_ASD_discovery_cases-case14258.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 CCDC17,GPBP1L1,NASP
 
 levy_11_ASD_discovery_cases-11705.p1
 
 
 Paternal
 Simplex
 Segregated
 PPIAP36,TESK2
 
 mosca_16_DCD_discovery_cases-case128203
 qPCR
 
 Maternal
 Multi-generational
 Unknown
 TMEM53,RNF220,ARMH1
 
 mosca_16_DCD_discovery_cases-case128203
 
 
 Unknown
 Multi-generational
 Unknown
 MIR5584,RNF220
 
 pinto_10_ASD_discovery_cases-case5522_4
 Agilent1M
 
 paternal
 NA
 NA
 TMA16P2,IPP,MAST2
 
 poultney_13_ASD_discovery_cases-case05HI3678A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 PIK3R3,MAST2
 
 prasad_12_ASD_discovery_cases-case100679L
 
 
 Unknown
 Unknown
 Unknown
 IPP,MAST2
 
 prasad_12_ASD_discovery_cases-case94073
 qPCR
 
 Paternal
 Unknown
 Unknown
 PRDX1
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1007-0
 qPCR (CNV not detected)
 
 Biparental/Diploid copy number
 Unknown
 Unknown
 TMA16P2,MAST2
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1412-0
 qPCR
 
 De novo
 Unknown
 Unknown
 TMA16P2,MAST2
 
 salyakina_11_ASD_discovery_cases-17545_001
 qPCR
 
 Maternal
 Simplex
 Segregated
 ZSWIM5
 
 salyakina_11_ASD_discovery_cases-17545_100
 qPCR
 
 Maternal
 Multiplex
 Not segregated
 ZSWIM5
 
 salyakina_11_nonASD_discovery_cases-17545_103
 qPCR
 
 Maternal
 Multiplex
 Not segregated
 ZSWIM5
 
 sanders_11_ASD_discovery_cases-11161.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZSWIM5
 
 sanders_11_ASD_discovery_cases-11194.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ZSWIM5
 
 sanders_11_ASD_discovery_cases-11200.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ZSWIM5
 
 sanders_11_ASD_discovery_cases-11250.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZSWIM5
 
 sanders_11_ASD_discovery_cases-11364.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZSWIM5
 
 sanders_11_ASD_discovery_cases-11578.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ZSWIM5
 
 sanders_11_ASD_discovery_cases-11600.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZSWIM5
 
 sanders_11_ASD_discovery_cases-11720.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZSWIM5
 
 sanders_11_ASD_discovery_cases-12233.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ZSWIM5
 
 sanders_11_ASD_discovery_cases-12368.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZSWIM5
 
 sanders_11_ASD_discovery_cases-12536.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ZSWIM5
 
 sanders_11_ASD_discovery_cases-12704.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ZSWIM5
 
 sanders_11_ASD_discovery_cases-13007.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ZSWIM5
 
 wenger_16_ASD_discovery_cases-case34
 
 
 Unknown
 
 
 MMACHC,CCDC163,PRDX1,HMGB1P48,AKR1A1,TESK2,NASP
 
 zhang_24_ASD_discovery_cases-case2
 
 
 De novo
 
 
 TMEM69,GPBP1L1,CCDC17,IPP,RPS15AP10,HMGB1P48,PRDX1,NASP,AKR1A1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900569_900569
 
 
  Unknown
 
 
  CCDC163,TESK2
 
engchuan_15_ASD_discovery_controls-controlHABC_902493_902493
 
 
  Unknown
 
 
  TMA16P2,MAST2
 
kanduri_15_ASD_discovery_controls-control_split1297
 
 
  Unknown
 
 
  MAST2
 
sanders_11_ASD_discovery_controls-11161.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZSWIM5
 
sanders_11_ASD_discovery_controls-11194.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ZSWIM5
 
sanders_11_ASD_discovery_controls-11501.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ZSWIM5
 
sanders_11_ASD_discovery_controls-11843.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZSWIM5
 
sanders_11_ASD_discovery_controls-12368.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZSWIM5
 
sanders_11_ASD_discovery_controls-12681.s1
 
 
  Paternal
  Simplex (quad)
  NA
  TMA16P2,IPP,MAST2
 
sanders_11_ASD_discovery_controls-12704.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ZSWIM5
 
sanders_11_ASD_discovery_controls-12715.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZSWIM5
 
sanders_11_ASD_discovery_controls-13036.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZSWIM5
 

No Animal Model Data Available
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