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19q12CNV Type: Deletion-Duplication


Largest CNV size: 900000 bp

Statistics Box:
Number of Reports: 11



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
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
NA
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-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons.
Deletion
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 caubit_16_ASD/ID_discovery_cases
 Seven patients from six unrelated families with 19q12-q13.11 deletions that included the TSHZ3 gene but not the 19q13.11 syndrome critical region
 7
 5/7 cases present with ASD
 N/A
 57.14% Male
 2400000
 5
 0
 5
 christian_08_ASD_discovery_cases
 Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
 397
 ASD
 
 58.4% Male
 900000
 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
 1680000
 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
 212318
 3
 1
 4
 fitzgerald_14_ASD/DD/ID_discovery_cases
 Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
 1133
 Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
 Median age, 5.5 years
 N/A
 1209759
 0
 1
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 811516
 0
 2
 2
 larson_17_ASD_discovery_cases
  NA NA
 Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
 116
 All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
 N/A
 N/A
 78890
 0
 1
 1
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 69442
 1
 0
 1
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 73610
 1
 1
 2
 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
 321202
 14
 24
 38
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 67666
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 christian_08_ASD_discovery_controls
 Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
 372
 Controls
 
 
 900000
 0
 0
 0
 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
 2211678
 2
 4
 6
 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
 larson_17_ASD_discovery_controls
  NA NA
 Entries listed in the Database of Genomic Variants (up to October 2017)
 N/A
 Control
 N/A
 N/A
 78890
 0
 0
 0
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 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)
 73610
 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.
 
 321202
 9
 20
 29
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 67666
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 caubit_16_ASD/ID_discovery_cases
  N/A
 N/A
  Discovery platform N/A
 
 
 Not reported
 christian_08_ASD_discovery_cases
  235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
 aCGH
  RPCI 19K BAC microarray
 
 
 FISH, microsatellite, qPCR
 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
 fitzgerald_14_ASD/DD/ID_discovery_cases
  UK and Ireland
 aCGH, WES
  Agilent 2x1M, Agilent Exome+
 
 Cnsolidate, CoNVex
 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
 larson_17_ASD_discovery_cases
  United Kingdom
 Array SNP
  Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
 SNP-FASST2 Segmentation
 Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
 None
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  christian_08_ASD_discovery_controls
  262 Caucasians, 100 African-Americans
  aCGH
  RPCI 19K BAC microarray
 
 
 
  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
 
  larson_17_ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
 
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  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
 
 
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  caubit_16_ASD/ID_discovery_cases-case1
 N/A
 F
 Speech delay and autistic features
 Birth/neonatal history: neonatal feeding difficulty. Developmental milestones: speech delay. Behavioral/psychiatric evaluation: stereotypical gestures, attentiveness disorder, echolalia. Additional medical history: pyelocalyceal dilatation. Growth parameters: postnatal growth retardation.
 Cognitive dysexecutive trouble, reasoning, limitations in adaptive behavior, memory deficit
 N/A
 N/A
  2400000
 GRCh37
 Deletion
 No
  caubit_16_ASD/ID_discovery_cases-case3a
 N/A
 M
 ASD
 Birth/neonatal history: neonatal feeding difficulty. Developmental milestones: developmental delay. Behavioral/psychiatric evaluation: atypical autism. Growth parameters: postnatal growth retardation.
 
 N/A
 N/A
  1060000
 GRCh37
 Deletion
 No
  caubit_16_ASD/ID_discovery_cases-case3b
 N/A
 M
 Feeding difficulties and growth retardation
 Birth/neonatal history: neonatal feeding difficulty. Growth parameters: postnatal growth retardation.
 
 N/A
 N/A
  1060000
 GRCh37
 Deletion
 No
  caubit_16_ASD/ID_discovery_cases-case6
 N/A
 F
 ASD
 Birth/neonatal history: neonatal feeding difficulty. Developmental milestones: speech delay. Behavioral/psychiatric evaluation: autism.
 
 N/A
 N/A
  460000
 GRCh37
 Deletion
 No
  caubit_16_ASD/ID_discovery_cases-case7
 N/A
 F
 ASD
 Birth/neonatal history: neonatal feeding difficulty. Developmental milestones: speech delay. Behavioral/psychiatric evaluation: ASD, autoaggressive behavior requiring neuroleptics. Additional medical history: vesicoureteral reflux grade 2. Dysmorphic features: 5th finger clinodactyly.
 Cognitive impairment
 31274975
 31321490
  46516
 GRCh38
 Deletion
 No
  christian_08_ASD_discovery_cases-AU027604
 NA
 F
 ASD
 NA
 NA
 27405788
 28314345
  908558
 GRCh38
 Duplication
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_299791
  NA NA
 N/A
 M
 ASD, ID, and epilepsy/seizures
 Autism, behavioral abnormality, seizures
 Severe intellectual disability
 29211673
 30892034
  1680362
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case18171_302
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 28002055
 28214373
  212319
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4392_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 28256327
 28385094
  128768
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6280_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 28573533
 28720542
  147010
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8636_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 29766252
 29874596
  108345
 GRCh38
 Duplication
 No
  fitzgerald_14_ASD/DD/ID_discovery_cases-case000016
 N/A
 N/A
 N/A
 Clinical profile N/A; CNV from Supplementary Table S20
 N/A
 30204346
 31414106
  1209761
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004354
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 27362299
 27940935
  578637
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004439
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 27362299
 28173816
  811518
 GRCh38
 Duplication
 Yes
  larson_17_ASD_discovery_cases-case2
  NA NA
 N/A
 F
 ASD and psychosis
 Female, above average IQ, age of onset 20s, atypical psychosis (no consensus diagnosis), no family history (fourth unique CNV for this individual. CNV not reported in DGV.
 Above average IQ
 29483406
 29562296
  78891
 GRCh38
 Duplication
 No
  marshall_08_ASD_discovery_cases-SK0121-003
 NA
 M
 ASD
 NA
 NA
 28510616
 28580058
  69443
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case165450L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 34830823
 34841389
  10567
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case91085L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 33691997
 33765606
  73610
 Unknown
 Deletion
 No
  sanders_11_ASD_discovery_cases-11152.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 61; verbal IQ, 57
 27272532
 27402753
  130222
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11158.p1
 10.7
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
 27253973
 27371786
  117814
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11333.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 53
 27436482
 27568550
  132069
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11339.p1
 10
 F
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 62; verbal IQ, 93
 30608682
 30613672
  4991
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11357.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 112; verbal IQ, 91
 27272532
 27496316
  223785
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11498.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 102; verbal IQ, 110
 27272532
 27496316
  223785
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11644.p1
 17
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 106; verbal IQ, 112
 27253973
 27496316
  242344
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11681.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 84; verbal IQ, 85
 28720494
 28720542
  49
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11698.p1
 8.4
 F
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 110; verbal IQ, 117
 28708870
 28720542
  11673
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11734.p1
 13.8
 F
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
 27805500
 27827580
  22081
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11868.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 91; verbal IQ, 86
 27805500
 27827580
  22081
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11914.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 81; verbal IQ, 91
 28720494
 28720542
  49
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11931.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 69; verbal IQ, 51
 27253973
 27575175
  321203
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12009.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
 27253973
 27318338
  64366
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12050.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 60; verbal IQ, 64
 27436482
 27481645
  45164
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12052.p1
 7.4
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 100; verbal IQ, 64
 27272532
 27310906
  38375
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12073.p1
 5.9
 F
 Autism
 NA
 Full-scale IQ, 110; non-verbal IQ, 111; verbal IQ, 105
 27253973
 27352224
  98252
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12115.p1
 12.1
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 107; verbal IQ, 94
 27253973
 27318338
  64366
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12119.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 41
 27436482
 27496316
  59835
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12119.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 41
 27253973
 27352224
  98252
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12152.p1
 8.5
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 118
 27805500
 27827580
  22081
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12173.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 92; verbal IQ, 93
 28619911
 28630021
  10111
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12240.p1
 8.9
 M
 ASD
 NA
 Full-scale IQ, 91; non-verbal IQ, 86; verbal IQ, 104
 27402753
 27442966
  40214
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12261.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 73
 27253973
 27481645
  227673
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12279.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 64; verbal IQ, 58
 31381364
 31387176
  5813
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12341.p1
 13.8
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 117; verbal IQ, 114
 27253973
 27352224
  98252
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12343.p1
 6.2
 F
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 18
 27253973
 27352224
  98252
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12379.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 86
 31749403
 31757947
  8545
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12505.p1
 5.3
 M
 ASD
 NA
 Full-scale IQ, 75; non-verbal IQ, 87; verbal IQ, 48
 27496316
 27522121
  25806
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12742.p1
 4.8
 M
 ASD
 NA
 Full-scale IQ, 105; non-verbal IQ, 103; verbal IQ, 106
 28720494
 28720542
  49
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12790.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 31; non-verbal IQ, 44; verbal IQ, 18
 27287920
 27352224
  64305
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12939.p1
 12.8
 M
 Autism
 NA
 Full-scale IQ, 20; non-verbal IQ, 28; verbal IQ, 11
 27442966
 27496316
  53351
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12984.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 102; verbal IQ, 96
 27253973
 27496316
  242344
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13015.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
 27253973
 27496316
  242344
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13016.p1
 5.5
 M
 Aspergers
 NA
 Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
 27436482
 27496316
  59835
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13175.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 52
 27253973
 27496316
  242344
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13303.p1
 5.6
 F
 ASD
 NA
 Full-scale IQ, 101; non-verbal IQ, 107; verbal IQ, 90
 28756376
 28804088
  47713
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13337.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 125; non-verbal IQ, 107; verbal IQ, 110
 27805500
 27827580
  22081
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case548
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 29945501
 30013166
  67666
 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-control110036019727_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  28367455
  29036352
  668898
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB384949_1007853872
  N/A
  N/A
  Control
  No previous psychiatric history
 
  27545836
  27613351
  67516
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB928566_1007844750
  N/A
  N/A
  Control
  No previous psychiatric history
 
  27272532
  29484211
  2211680
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901079_901079
  N/A
  N/A
  Control
  No previous psychiatric history
 
  27657865
  27773931
  116067
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902642_902642
  N/A
  N/A
  Control
  No previous psychiatric history
 
  29093783
  29126526
  32744
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902971_902971
  N/A
  N/A
  Control
  No previous psychiatric history
 
  27333180
  28385094
  1051915
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11023.s1
  10.4
  F
  Control (matched sibling)
  NA
  NA
  27272532
  27496316
  223785
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11054.s1
  10.5
  M
  Control (matched sibling)
  NA
  NA
  27448125
  27496316
  48192
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11114.s1
  11.6
  F
  Control (matched sibling)
  NA
  NA
  27805500
  27821292
  15793
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11258.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  27272532
  27344155
  71624
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11374.s1
  18.1
  F
  Control (matched sibling)
  NA
  NA
  28708870
  28720542
  11673
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11378.s1
  11.2
  M
  Control (matched sibling)
  NA
  NA
  27272532
  27510779
  238248
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11395.s1
  3.5
  M
  Control (matched sibling)
  NA
  NA
  27272532
  27496316
  223785
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11399.s1
  13.3
  M
  Control (matched sibling)
  NA
  NA
  27470673
  27496316
  25644
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11561.s1
  8.9
  M
  Control (matched sibling)
  NA
  NA
  27272532
  27496316
  223785
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11711.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  27253973
  27352224
  98252
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11792.s1
  8.6
  M
  Control (matched sibling)
  NA
  NA
  27253973
  27570475
  316503
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11868.s1
  5.2
  F
  Control (matched sibling)
  NA
  NA
  27805500
  27827580
  22081
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11942.s1
  14.6
  M
  Control (matched sibling)
  NA
  NA
  27253973
  27575175
  321203
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11948.s1
  11.8
  M
  Control (matched sibling)
  NA
  NA
  27436482
  27496316
  59835
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11948.s1
  11.8
  M
  Control (matched sibling)
  NA
  NA
  27253973
  27352224
  98252
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12036.s1
  5.9
  F
  Control (matched sibling)
  NA
  NA
  27805500
  27827580
  22081
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12060.s1
  10.6
  F
  Control (matched sibling)
  NA
  NA
  27278809
  27310906
  32098
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12073.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  27432927
  27496316
  63390
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12073.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  27253973
  27352224
  98252
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12274.s1
  7.6
  F
  Control (matched sibling)
  NA
  NA
  28000968
  28066003
  65036
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12320.s1
  23.3
  F
  Control (matched sibling)
  NA
  NA
  27253973
  27348545
  94573
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12790.s1
  8.9
  F
  Control (matched sibling)
  NA
  NA
  27253973
  27348545
  94573
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12852.s1
  6.3
  M
  Control (matched sibling)
  NA
  NA
  27253973
  27496316
  242344
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12901.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  28095954
  28113798
  17845
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13076.s1
  19.5
  F
  Control (matched sibling)
  NA
  NA
  27368659
  27448125
  79467
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13076.s1
  19.5
  F
  Control (matched sibling)
  NA
  NA
  27253973
  27352224
  98252
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13175.s1
  13.7
  F
  Control (matched sibling)
  NA
  NA
  27253973
  27496316
  242344
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13216.s1
  6
  M
  Control (matched sibling)
  NA
  NA
  27253973
  27496316
  242344
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13222.s1
  13.5
  F
  Control (matched sibling)
  NA
  NA
  27253973
  27337756
  83784
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 caubit_16_ASD/ID_discovery_cases-case1
 None reported
 
 De novo
 
 Likely segregated
 CNV gene content N/A due to lack of defined start and end points but does contain at least part of the TSHZ3 gene (minimal region of overlap of chr19:31765881-31812396; hg19)
 
 caubit_16_ASD/ID_discovery_cases-case3a
 None reported
 
 Maternal
 Multiplex
 Likely segregated
 CNV gene content N/A due to lack of defined start and end points but does contain at least part of the TSHZ3 gene (minimal region of overlap of chr19:31765881-31812396; hg19)
 
 caubit_16_ASD/ID_discovery_cases-case3b
 None reported
 
 Maternal
 Multiplex
 Likely segregated
 CNV gene content N/A due to lack of defined start and end points but does contain at least part of the TSHZ3 gene (minimal region of overlap of chr19:31765881-31812396; hg19)
 
 caubit_16_ASD/ID_discovery_cases-case6
 None reported
 
 Paternal
 
 Unknown
 CNV gene content N/A due to lack of defined start and end points but does contain at least part of the TSHZ3 gene (minimal region of overlap of chr19:31765881-31812396; hg19)
 
 caubit_16_ASD/ID_discovery_cases-case7
 None reported
 
 Unknown
 
 Unknown
 TSHZ3
 
 christian_08_ASD_discovery_cases-AU027604
 FISH, microsatellite
 
 inherited
 Multiplex
 NA
 SLC25A1P5,ERVK-28,LINC00662
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_299791
 qPCR
 
 De novo
 
 
 RN7SL340P,PPIAP58,RPL9P32,TAF9P3,UQCRFS1,VSTM2B,POP4,PLEKHF1,C19orf12,CCNE1,URI1,ZNF536
 
 engchuan_15_ASD_discovery_cases-case18171_302
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4392_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6280_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8636_201
 
 
 Unknown
 
 
 CCNE1
 
 fitzgerald_14_ASD/DD/ID_discovery_cases-case000016
 
 
 De novo
 Unknown
 Unknown
 LINC01834,LINC01791,TSHZ3,ZNF536
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004354
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SLC25A1P5,ERVK-28,LINC00662
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004439
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 SLC25A1P5,ERVK-28,LINC00662
 
 larson_17_ASD_discovery_cases-case2
 
 
 Unknown
 Simplex
 Unknown
 VSTM2B
 
 marshall_08_ASD_discovery_cases-SK0121-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 
 
 prasad_12_ASD_discovery_cases-case165450L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case91085L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11152.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11158.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11333.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11339.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 ZNF536
 
 sanders_11_ASD_discovery_cases-11357.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11498.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11644.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11681.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11698.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11734.p1
 
 
 Paternal
 Simplex (trio)
 NA
 SLC25A1P5
 
 sanders_11_ASD_discovery_cases-11868.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SLC25A1P5
 
 sanders_11_ASD_discovery_cases-11914.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11931.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12009.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12050.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12052.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12073.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12115.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12119.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12119.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12152.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SLC25A1P5
 
 sanders_11_ASD_discovery_cases-12173.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12240.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12261.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12279.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12341.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12343.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12379.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12505.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12742.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12790.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12939.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12984.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13015.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13016.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13175.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13303.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MAN1A2P1
 
 sanders_11_ASD_discovery_cases-13337.p1
 
 
 Maternal
 Simplex (trio)
 NA
 SLC25A1P5
 
 yin_16_ASD_discovery_cases-case548
 
 
 Unknown
 Unknown
 Unknown
 RPL9P32,URI1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036019727_
 
 
  Unknown
 
 
  MAN1A2P1,RNA5SP470,LINC01532,LINC00906
 
engchuan_15_ASD_discovery_controls-controlB384949_1007853872
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB928566_1007844750
 
 
  Unknown
 
 
  SLC25A1P5,MAN1A2P1,RNA5SP470,LINC01532,RN7SL340P,ERVK-28,UQCRFS1,LINC00662,LINC00906
 
engchuan_15_ASD_discovery_controls-controlHABC_901079_901079
 
 
  Unknown
 
 
  LINC00662
 
engchuan_15_ASD_discovery_controls-controlHABC_902642_902642
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902971_902971
 
 
  Unknown
 
 
  SLC25A1P5,ERVK-28,LINC00662
 
sanders_11_ASD_discovery_controls-11023.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11054.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11114.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLC25A1P5
 
sanders_11_ASD_discovery_controls-11258.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11374.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11378.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11395.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11399.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11561.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11711.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11792.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11868.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SLC25A1P5
 
sanders_11_ASD_discovery_controls-11942.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11948.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11948.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12036.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SLC25A1P5
 
sanders_11_ASD_discovery_controls-12060.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12073.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12073.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12274.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12320.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12790.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12852.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12901.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13076.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13076.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13175.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13216.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13222.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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