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3p25.1CNV Type: Deletion-Duplication


Largest CNV size: 399405 bp

Statistics Box:
Number of Reports: 15



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.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
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.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Novel copy number variants in children with autism and additional developmental anomalies.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 davis_09_ASD_discovery_cases
 Autistic cases from Autism Genetic Research Exchange (AGRE)
 36
 ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
 NA
 NA
 38289
 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
 68885
 3
 0
 3
 gai_11_ASD_discovery_cases
 Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
 631
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 181148
 1
 1
 2
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 170205
 0
 2
 2
 gazzellone_14_ASD_discovery_cases
 ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
 104
 Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 Mean age at enrollment, 4.31 1.80 yrs.
 87.5% Male
 22811
 1
 0
 1
 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
 376000
 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
 194146
 0
 3
 3
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 1866
 1
 0
 1
 leppa_16_ASD_discovery_cases
 Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 1764
 Diagnosis according to ADOS and ADI-R
 N/A
 N/A
 700000
 0
 1
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 290275
 1
 0
 1
 lionel_13_ASD/ADHD/DD/ID_discovery_cases
 Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
 89985
 64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
 N/A
 N/A
 322276
 0
 1
 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
 
 
 68886
 2
 0
 2
 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)
 383414
 0
 2
 2
 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
 43800
 4
 0
 4
 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
 150435
 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
 399405
 4
 7
 11

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
 237319
 3
 2
 5
 girirajan_13b_ASD_discovery_controls
 Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
 223
 Control
 N/A
 N/A
 503830
 0
 1
 1
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 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)
 110374
 0
 1
 1
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 43800
 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.
 
 172849
 2
 4
 6

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 davis_09_ASD_discovery_cases
  NA
 Array SNP
  Affymetrix 250K Nsp, Affymetrix 250K Syt
 HMM
 CNAG v2.0
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 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_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 leppa_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
 PennCNV, QuantiSNP, GNOSIS
 GenomeStudio, CNVision
 None
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 lionel_13_ASD/ADHD/DD/ID_discovery_cases
  N/A
 aCGH, array SNP, solid phase hybridization
  Multiple platforms (Agilent, Affymetrix, Illumina)
 
 
 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)
 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
 None
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 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
 
 

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  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
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  davis_09_ASD_discovery_cases-AU005303
 NA
 NA
 Syndromic ASD
 Diagnosis: autism. Syndromic autism features: alopecia, areata. Family history: father with symptoms of OCD and ADHD
 
 15066252
 15104541
  38289
 Unknown
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case1956_302
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 12747439
 12816324
  68886
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20147_1562001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 13962637
 14009501
  46865
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5284_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 12691898
 12737295
  45398
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1325304
 
 
 Autism
 
 
 12599763
 12780910
  181148
 Unknown
 Duplication
 No
  gai_11_ASD_discovery_cases-AU1377302
 
 
 Autism
 
 
 12763938
 12832493
  68556
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU039903
 
 
 Autism
 
 
 12611255
 12780910
  169656
 Unknown
 Duplication
 No
  gai_11_ASD_replication_cases-AU039904
 
 
 Autism
 
 
 12610706
 12780910
  170205
 Unknown
 Duplication
 No
  gazzellone_14_ASD_discovery_cases-case530-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 15646079
 15668890
  22812
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-11905.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
 12433501
 12813501
  380001
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001852
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 12608508
 12802654
  194147
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001907
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 12608508
 12802654
  194147
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001969
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 12599858
 12748947
  149090
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13464.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 15456459
 15458325
  1867
 GRCh38
 Deletion
 Yes
  leppa_16_ASD_discovery_cases-AU1749301
 N/A
 M
 ASD
 
 
 15601493
 16260493
  659001
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-12534.p1
 NA
 F
 ASD
 NA
 NA
 12888492
 13178765
  290274
 GRCh38
 Deletion
 No
  lionel_13_ASD/ADHD/DD/ID_discovery_cases-case32
 23 yrs
 M
 ASD
 Autism/autistic behavior (Asperger), structural brain anomaly. Family history: apparently normal mother (has deletion)
 
 12535850
 12858125
  322276
 GRCh38
 Duplication
 No
  pinto_10_ASD_discovery_cases-case1956_302
 NA
 M
 Autism
 Low functioning autism, non verbal
 MR (untestable by Ravens)
 12747439
 12816324
  68886
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5284_3
 NA
 M
 ASD
 NA
 NA
 12691898
 12737295
  45398
 GRCh38
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case05HI4029A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1523304; NDAR ID NDAR_INVKH745LFQ)
 
 15095971
 15479384
  383414
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case98HI0582A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU045903; NDAR ID NDAR_INVJU319BGV)
 
 14181558
 14198118
  16561
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case117368L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 12710584
 12754383
  43800
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case168999
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 13307600
 13324733
  17134
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case47378
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 12821127
 12837200
  16074
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case67953L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 13425144
 13439323
  14180
 Unknown
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1506-0
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: unknown.
 12614190
 12764624
  150435
 GRCh38
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11108.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 114; verbal IQ, 85
 13001482
 13005502
  4021
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11245.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 107; verbal IQ, 117
 12687986
 12715447
  27462
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11680.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
 12591794
 12776123
  184330
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11704.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
 12436243
 12439330
  3088
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11905.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 71; verbal IQ, 34
 12430363
 12829768
  399406
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12001.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 111
 13001482
 13006102
  4621
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12212.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 26; non-verbal IQ, 29; verbal IQ, 20
 12439330
 12442132
  2803
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12465.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 87; verbal IQ, 105
 13001482
 13006102
  4621
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12481.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 42; non-verbal IQ, 47; verbal IQ, 37
 12591794
 12764643
  172850
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12534.p1
 7
 F
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 83; verbal IQ, 84
 12887263
 13177837
  290575
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12723.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 38
 13907403
 13955982
  48580
 GRCh38
 Duplication
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-controlB237493_1007841091
  N/A
  N/A
  Control
  No previous psychiatric history
 
  14250003
  14289564
  39562
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900348_900348
  N/A
  N/A
  Control
  No previous psychiatric history
 
  12705308
  12757062
  51755
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902543_902543
  N/A
  N/A
  Control
  No previous psychiatric history
 
  13174212
  13303950
  129739
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902566_902566
  N/A
  N/A
  Control
  No previous psychiatric history
 
  13158456
  13395775
  237320
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902782_902782
  N/A
  N/A
  Control
  No previous psychiatric history
 
  13898096
  14052086
  153991
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-40804101794
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  12873602
  13377431
  503830
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C29005A
  N/A
  M
  Control
  NIMH Control (NIMH ID 43418)
 
  15411254
  15521627
  110374
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11167.s1
  7.3
  M
  Control (matched sibling)
  NA
  NA
  14549839
  14569254
  19416
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11300.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  13001482
  13005502
  4021
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12481.s1
  9
  M
  Control (matched sibling)
  NA
  NA
  12591794
  12764643
  172850
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12552.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  13001482
  13006102
  4621
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13015.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  12436243
  12442132
  5890
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13183.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  12436243
  12442132
  5890
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 davis_09_ASD_discovery_cases-AU005303
 
 
 Unknown
 Multiplex
 Unknown
 0 genes
 
 engchuan_15_ASD_discovery_cases-case1956_302
 
 
 Unknown
 
 
 KRT18P17,TMEM40,CAND2
 
 engchuan_15_ASD_discovery_cases-case20147_1562001
 
 
 Unknown
 
 
 TPRXL
 
 engchuan_15_ASD_discovery_cases-case5284_3
 
 
 Unknown
 
 
 TMEM40
 
 gai_11_ASD_discovery_cases-AU1325304
 
 
 Inherited
 
 
 MKRN2, RAF1, TMEM40
 
 gai_11_ASD_discovery_cases-AU1377302
 
 
 Inherited
 
 
 TMEM40, CAND2
 
 gai_11_ASD_replication_cases-AU039903
 
 
 Inherited
 
 
 RAF1, TMEM40
 
 gai_11_ASD_replication_cases-AU039904
 
 
 Inherited
 
 
 RAF1, TMEM40
 
 gazzellone_14_ASD_discovery_cases-case530-3
 
 
 Unknown
 Unknown
 Unknown
 BTD,ANKRD28
 
 girirajan_13a_ASD_discovery_cases-11905.p1
 
 
 Unknown
 Simplex
 Unknown
 RNA5SP123,RNU6-377P,CRIP1P1,KRT18P17,TSEN2,MKRN2OS,RAF1,TMEM40,PPARG,CAND2,MKRN2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001852
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 CRIP1P1,KRT18P17,RAF1,TMEM40,CAND2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001907
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 CRIP1P1,KRT18P17,RAF1,TMEM40,CAND2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001969
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 CRIP1P1,RAF1,TMEM40
 
 krumm_15_ASD_discovery_cases-case13464.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 COLQ
 
 leppa_16_ASD_discovery_cases-AU1749301
 
 
 Paternal
 Multiplex
 Not segregated (CNV not present in affected sibling)
 MIR3134,RN7SL4P,MIR563,IMPDH1P8,DPH3,BTD,GALNT15,HACL1,ANKRD28
 
 levy_11_ASD_discovery_cases-12534.p1
 
 
 Maternal
 Simplex
 Segregated
 IQSEC1
 
 lionel_13_ASD/ADHD/DD/ID_discovery_cases-case32
 
 
 Paternal
 
 
 CRIP1P1,KRT18P17,RPL32,SNORA7A,TSEN2,MKRN2OS,RAF1,TMEM40,CAND2,MKRN2
 
 pinto_10_ASD_discovery_cases-case1956_302
 Illumina550
 
 paternal
 NA
 NA
 KRT18P17,TMEM40,CAND2
 
 pinto_10_ASD_discovery_cases-case5284_3
 Agilent1M
 
 paternal
 NA
 NA
 TMEM40
 
 poultney_13_ASD_discovery_cases-case05HI4029A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RPS3AP53,SH3BP5-AS1,RNU6-454P,HMGN2P7,RNU6-1024P,CAPN7,METTL6,EAF1,EAF1-AS1,RBSN,COL6A4P1,SH3BP5,COLQ
 
 poultney_13_ASD_discovery_cases-case98HI0582A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 LSM3
 
 prasad_12_ASD_discovery_cases-case117368L
 
 
 Unknown
 Unknown
 Unknown
 TMEM40
 
 prasad_12_ASD_discovery_cases-case168999
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case47378
 
 
 Unknown
 Unknown
 Unknown
 CAND2
 
 prasad_12_ASD_discovery_cases-case67953L
 
 
 Unknown
 Unknown
 Unknown
 NUP210
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1506-0
 qPCR
 
 Paternal
 Unknown
 Unknown
 CRIP1P1,RAF1,TMEM40
 
 sanders_11_ASD_discovery_cases-11108.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 IQSEC1
 
 sanders_11_ASD_discovery_cases-11245.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11680.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CRIP1P1,RAF1,TMEM40
 
 sanders_11_ASD_discovery_cases-11704.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11905.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNA5SP123,RNU6-377P,CRIP1P1,KRT18P17,TSEN2,MKRN2OS,RAF1,TMEM40,PPARG,CAND2,MKRN2
 
 sanders_11_ASD_discovery_cases-12001.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 IQSEC1
 
 sanders_11_ASD_discovery_cases-12212.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12465.p1
 
 
 Paternal
 Simplex (trio)
 NA
 IQSEC1
 
 sanders_11_ASD_discovery_cases-12481.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CRIP1P1,RAF1,TMEM40
 
 sanders_11_ASD_discovery_cases-12534.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 IQSEC1
 
 sanders_11_ASD_discovery_cases-12723.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 VN1R20P,FGD5P1,TPRXL
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB237493_1007841091
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900348_900348
 
 
  Unknown
 
 
  TMEM40
 
engchuan_15_ASD_discovery_controls-controlHABC_902543_902543
 
 
  Unknown
 
 
  IQSEC1
 
engchuan_15_ASD_discovery_controls-controlHABC_902566_902566
 
 
  Unknown
 
 
  IQSEC1,NUP210
 
engchuan_15_ASD_discovery_controls-controlHABC_902782_902782
 
 
  Unknown
 
 
  VN1R20P,FGD5P1,TPRXL
 
girirajan_13b_ASD_discovery_controls-40804101794
 
 
  Unknown
 
 
  LINC02022,IQSEC1,NUP210
 
poultney_13_ASD_discovery_controls-control04C29005A
 
 
  Unknown
 
 
  RNU6-1024P,MIR4270,RN7SL110P,METTL6,EAF1,EAF1-AS1,COLQ
 
sanders_11_ASD_discovery_controls-11167.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GRIP2
 
sanders_11_ASD_discovery_controls-11300.s1
 
 
  Paternal
  Simplex (quad)
  NA
  IQSEC1
 
sanders_11_ASD_discovery_controls-12481.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CRIP1P1,RAF1,TMEM40
 
sanders_11_ASD_discovery_controls-12552.s1
 
 
  Paternal
  Simplex (quad)
  NA
  IQSEC1
 
sanders_11_ASD_discovery_controls-13015.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13183.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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