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5q35.2CNV Type: Deletion-Duplication


Largest CNV size: 286384 bp

Statistics Box:
Number of Reports: 14



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
De novo rates and selection of large copy number variation.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Excess of rare, inherited truncating mutations in autism.
Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
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
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Global increases in both common and rare copy number load associated with autism.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 157088
 1
 3
 4
 girirajan_11_ASD_discovery_cases
 ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
 336
 Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
 
 
 104848
 2
 0
 2
 girirajan_13b_ASD_discovery_cases
 Children with autism 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 (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 100564
 0
 1
 1
 itsara_10_ASD_discovery_cases
 ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
 1330
 ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
 
 
 1866691
 1
 0
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 2093574
 1
 0
 1
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 3491
 1
 1
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 367460
 0
 4
 4
 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
 1867000
 1
 0
 1
 lionel_13_ASD/SCZ/EP_discovery_cases
 Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
 5384
 ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
 NA
 NA
 33407
 1
 0
 1
 pfundt_16_NDD_discovery_cases
 Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
 1215
 Neurodevelopmental disorders
 N/A
 N/A
 1577243
 1
 0
 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)
 24192
 0
 3
 3
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children in Toronto, Ontario; McMaster University, Hamilton, Ontario; Memorial University of Newfoundland, St. John's, Newfoundland); the majority of these cases had been previously genotyped by SNP arrays with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were exclu
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 7983
 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
 286384
 15
 5
 20
 soueid_16_ASD_discovery_cases
 Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
 41
 All cases fulfilled DSM-V criteria for autism
 Range, 3-18 yrs.
 92.68% Male
 201000
 1
 0
 1
 soueid_16_DD/ID_discovery_cases
 Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
 35
 Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
 N/A
 N/A
 0
 0
 0
 0

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
 103055
 1
 4
 5
 girirajan_11_ASD_discovery_controls
 Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
 337
 Control. Individuals screened specifically for eight mental health disorders.
 
 
 104848
 0
 0
 0
 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
 154894
 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
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 4190
 1
 2
 3
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 361785
 0
 4
 4
 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)
 7983
 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.
 
 114136
 8
 4
 12
 soueid_16_ASD_discovery_controls
 Control cohort of normal participants
 37
 Control
 N/A
 51.35% Male
 0
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 girirajan_11_ASD_discovery_cases
 
 aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
 HMM
 
 None
 girirajan_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 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
 
 None
 itsara_10_ASD_discovery_cases
 
 Solid phase hybridization
  Illumina HumanHap550v1 and v3 SNP array
 HMM
 Illumina GenomeStudio
 aCGH (custom NimbleGen 12 X 135)
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K or 105K
 
 Feature Extraction & DNA Analytics
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 None
 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
 lionel_13_ASD/SCZ/EP_discovery_cases
  NA
 aCGH, array SNP
  Agilent ISCA 44K or 180K, Affymetrix 6.0
 
 Agilent DNA Analytics (aCGH); Birdsuite, iPattern, and Genotyping Console (array SNP)
 None
 pfundt_16_NDD_discovery_cases
  N/A
 WES
  Solid5500xl or IlluminaHiSeq2000
 
 CoNIFER
 Array SNP (Affymetrix CytoScan HD)
 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
 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 (n=334) or Illumina 1M v3 (n=840)
 PennCNV, QuantiSNP, & GNOSIS
 
 
 soueid_16_ASD_discovery_cases
  Lebanon
 Array SNP
  Affymetrix Cytogenetics 2.7M and CytoScan arrays
 
 Affymetrix Chromosome Analysis Suite (CHAS)
 None
 soueid_16_DD/ID_discovery_cases
  Lebanon
 Array SNP
  Affymetrix Cytogenetics 2.7M and CytoScan arrays
 
 Affymetrix Chromosome Analysis Suite (CHAS)
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
 
  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 or 105K
 
  Feature Extraction & DNA Analytics
 
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
 
  prasad_12_ASD_discovery_controls
  NA
  aCGH (PDx controls)
  Agilent 1M (PDx controls)
  PDx controls: ADM-2, DNAcopy (R Bioconductor)
  PDx controls: 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
 
 
  soueid_16_ASD_discovery_controls
  Lebanon
  Array SNP
  Affymetrix Cytogenetics 2.7M and CytoScan arrays
 
  Affymetrix Chromosome Analysis Suite (CHAS)
  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
  engchuan_15_ASD_discovery_cases-case13135_1523
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 176144148
 176202386
  58238
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13159_1763
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 174727515
 174780969
  53454
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14412_5210
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 176119652
 176192252
  72600
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4030_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 176103000
 176260088
  157088
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si118
 11
 M
 Autism
 ADOS score: 8. Vineland composite score: 63.
 Mild mental retardation/intellectual disability. Full-scale IQ, 68; Verbal IQ, 56; Non-verbal IQ, 76.
 176119984
 176224832
  104848
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si191
 12
 M
 Autism
 ADOS score: 7. Vineland composite score: 76.
 No mental retardation/intellectual disability. Full-scale IQ, 102; Verbal IQ, 108; Non-verbal IQ, 102.
 176145055
 176224832
  79777
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-21707108167
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
 N/A
 176119984
 176220548
  100564
 GRCh38
 Duplication
 No
  itsara_10_ASD_discovery_cases-HI2459
 NA
 NA
 Broad spectrum autism (Spectrum)
 NA
 NA
 176132836
 177999529
  1866691
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004044
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 172961091
 175054665
  2093574
 GRCh38
 Deletion
 Yes
  krumm_13_ASD_discovery_cases-case13504.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 13504. SRS score of 77.
 Full-scale IQ (FSIQ) score of 64.
 176887450
 176890941
  3491
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case13922.p1
 N/A
 F
 ASD
 ASD proband from SSC quad family 13922. SRS score of 90.
 Full-scale IQ (FSIQ) score of 100.
 176565352
 176568817
  3465
 GRCh38
 Deletion
 No (not tested)
  krumm_15_ASD_discovery_cases-case13504.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 176887001
 176891550
  4549
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14253.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 173608228
 173613257
  5029
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14256.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 176887001
 176891550
  4549
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14268.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 176289354
 176656816
  367460
 GRCh38
 Duplication
 Yes
  leppa_16_ASD_discovery_cases-AU0972302
 N/A
 N/A
 ASD
 SRS total score 57
 
 176132836
 177999529
  1867000
 GRCh38
 Deletion
 No
  lionel_13_ASD/SCZ/EP_discovery_cases-proband5
 24 yrs.
 M
 Schizophrenia
 Diagnosis of chronic schizophrenia confirmed through use of detailed psychiatric assessment, including use of a modified version of Strructed Clinical Interviews for DSM-III-R for Axis I disorder. Developmental milestones: no evidence of developmental delay. Behavioral/psychiatric evaluation: increasing anxiety, preoccupation, and paranoia at 23 years (responded well ti a few months of treatment with chloropromazine); admitted to hospital for schizophrenia at 24 years of age; improved with electroconvulsive therapy and was discharged for two months; following two additional hospitalizations, case has been relatively stable on standard antipsychotic medication regiment with an adjuvant antidepressant for many years. no evidence of autistic features. Epilepsy/seizures: no history of seizures. Dysmorphic features: no significant dysmorphology. Family history: non-consanguineous parents; no known history of neuropsychiatric illness or seizures in parents or siblings; significant history of schizophrenia in paternal extended family.
 Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.
 174887596
 174921002
  33407
 GRCh38
 Deletion
 No
  pfundt_16_NDD_discovery_cases-case31
 N/A
 N/A
 NDD
 Disease cohort: neurodevelopmental disorder. Description: MSX2 deletion
 
 
 
  1577243
 
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case99HI0671A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU033403; NDAR ID NDAR_INVFP134WLL)
 
 176388233
 176389499
  1267
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0802A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU055504; NDAR ID NDAR_INVXM069XZB)
 
 176386838
 176392947
  6110
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-caseHI4457
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1070302; NDAR ID NDAR_INVRN376JE5)
 
 176289654
 176313845
  24192
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case59794L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 
 
  7983
 
 Deletion
 No
  sanders_11_ASD_discovery_cases-11033.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 69; verbal IQ, 56
 176128965
 176235863
  106898
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11297.p1
 12.8
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 98; verbal IQ 73
 173000647
 173010638
  9991
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11453.p1
 8.8
 M
 ASD
 NA
 Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 109
 173000647
 173010638
  9991
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11543.p1
 16.9
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ, 31
 174162731
 174167086
  4355
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11556.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 102; verbal IQ, 108
 176132836
 176192510
  59674
 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
 175817031
 176103415
  286384
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11765.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 39; verbal IQ, 24
 176782413
 176785289
  2876
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11825.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 131; non-verbal IQ, 135; verbal IQ, 115
 173000647
 173010638
  9991
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11835.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 92; verbal IQ, 77
 172978030
 172980719
  2689
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11909.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 93; verbal IQ, 115
 174424521
 174427934
  3413
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12117.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 56
 176132836
 176235863
  103027
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12137.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
 173178124
 173186025
  7901
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12478.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 69; non-verbal IQ, 74; verbal IQ, 68
 176144148
 176202386
  58238
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12521.p1
 7.2
 F
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 78; verbal IQ, 83
 172978894
 172991340
  12446
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12555.p1
 16.9
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 113; verbal IQ, 126
 172975683
 172980719
  5036
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12558.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 95; verbal IQ, 51
 176132836
 176226250
  93414
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12587.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 98; verbal IQ, 98
 176144148
 176171008
  26860
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12798.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 73; verbal IQ, 65
 174162731
 174167086
  4355
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12939.p1
 12.8
 M
 Autism
 NA
 Full-scale IQ, 20; non-verbal IQ, 28; verbal IQ, 11
 174162731
 174167086
  4355
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13097.p1
 9.9
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 37; verbal IQ, 27
 176144148
 176211366
  67218
 GRCh38
 Duplication
 No
  soueid_16_ASD_discovery_cases-caseBAK42
 N/A
 M
 Autism
 Case fulfilled DSM-V criteria for autism; no other information available
 
 176011042
 176211614
  201000
 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-control110036025252_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  176132836
  176202386
  69550
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900222_900222
  N/A
  N/A
  Control
  No previous psychiatric history
 
  176132836
  176192510
  59674
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900451_900451
  N/A
  N/A
  Control
  No previous psychiatric history
 
  175647641
  175750696
  103055
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900801_900801
  N/A
  N/A
  Control
  No previous psychiatric history
 
  176135117
  176211366
  76249
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902744_902744
  N/A
  N/A
  Control
  No previous psychiatric history
 
  176153163
  176185174
  32011
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-2105102564
  N/A
  N/A
  Control
  Ethnicity: Mixed Race
  N/A
  177118677
  177197728
  79051
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-9409110993
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  176169795
  176324689
  154894
  GRCh38
  Duplication
  No
  krumm_13_ASD_discovery_controls-control12906.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 12906. SRS score of 40.
 
  176887001
  176891191
  4190
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control13504.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 13504. SRS score of 43.
 
  176887450
  176890941
  3491
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control13922.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 13922. SRS score of 41.
 
  176565352
  176568817
  3465
  GRCh38
  Deletion
  No (not tested)
  krumm_15_ASD_discovery_controls-control11869.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  173608228
  173613257
  5029
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13082.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  176887001
  176891550
  4549
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13504.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  176887001
  176891191
  4190
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14268.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  176295029
  176656816
  361785
  GRCh38
  Duplication
  Yes
  sanders_11_ASD_discovery_controls-11033.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  176103000
  176202386
  99386
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11524.s1
  17.3
  M
  Control (matched sibling)
  NA
  NA
  175135583
  175136789
  1206
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11556.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  176128965
  176243101
  114136
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11765.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  176782413
  176785289
  2876
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11835.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  172976525
  172980719
  4194
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12117.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  176132836
  176226250
  93414
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12434.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  174162731
  174167086
  4355
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12478.s1
  14.5
  M
  Control (matched sibling)
  NA
  NA
  176144148
  176202386
  58238
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12555.s1
  18.9
  F
  Control (matched sibling)
  NA
  NA
  172976525
  172980719
  4194
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12578.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  173000647
  173010638
  9991
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13082.s1
  4
  M
  Control (matched sibling)
  NA
  NA
  176887433
  176888298
  865
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13097.s1
  12.4
  F
  Control (matched sibling)
  NA
  NA
  176144148
  176211366
  67218
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 engchuan_15_ASD_discovery_cases-case13135_1523
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case13159_1763
 
 
 Unknown
 
 
 MSX2,MIR4634
 
 engchuan_15_ASD_discovery_cases-case14412_5210
 
 
 Unknown
 
 
 FAM153B
 
 engchuan_15_ASD_discovery_cases-case4030_1
 
 
 Unknown
 
 
 FAM153B,SIMC1
 
 girirajan_11_ASD_discovery_cases-Si118
 
 
 Paternal
 Simplex
 
 FAM153B
 
 girirajan_11_ASD_discovery_cases-Si191
 
 
 Maternal
 Simplex
 
 
 
 girirajan_13b_ASD_discovery_cases-21707108167
 
 
 Unknown
 Unknown
 Unknown
 FAM153B
 
 itsara_10_ASD_discovery_cases-HI2459
 aCGH (custom NimbleGen 12 X 135)
 
 De novo
 Multiplex
 
 MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,OR1X5P,SUDS3P1,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,FAM153A,PROP1,NSD1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004044
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 SNORA74B,CDC42P5,NKX2-5,RNA5SP200,MIR8056,RNU6-500P,BOD1,RPL12P22,GAPDHP71,SUMO2P6,HIGD1AP3,MSX2,NIFKP2,RPL26L1,CREBRF,STC2,LINC01863,LINC01942,LINC01484,C5orf47,MIR4634,BNIP1,LINC01485,CPEB4,LINC01411,LINC01951,ATP6V0E1
 
 krumm_13_ASD_discovery_cases-case13504.p1
 
 
 Maternal
 Simplex
 Not segregated
 HK3
 
 krumm_13_ASD_discovery_cases-case13922.p1
 
 
 Maternal
 Simplex
 Not segregated
 CDHR2
 
 krumm_15_ASD_discovery_cases-case13504.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 HK3
 
 krumm_15_ASD_discovery_cases-case14253.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 BOD1
 
 krumm_15_ASD_discovery_cases-case14256.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 HK3
 
 krumm_15_ASD_discovery_cases-case14268.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,SIMC1,CDHR2
 
 leppa_16_ASD_discovery_cases-AU0972302
 qPCR; technical failure
 
 De novo
 Multiplex
 Not segregated (CNV not present in affected sibling)
 MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,OR1X5P,SUDS3P1,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,FAM153A,PROP1,NSD1
 
 lionel_13_ASD/SCZ/EP_discovery_cases-proband5
 
 
 Unknown
 Simplex
 Unknown
 LINC01951
 
 pfundt_16_NDD_discovery_cases-case31
 Array SNP (Affymetrix CytoScan HD)
 
 
 
 
 
 
 poultney_13_ASD_discovery_cases-case99HI0671A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 NOP16,HIGD2A,ARL10
 
 poultney_13_ASD_discovery_cases-case99HI0802A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 NOP16,HIGD2A,ARL10,CLTB
 
 poultney_13_ASD_discovery_cases-caseHI4457
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 BRCC3P1,SIMC1
 
 prasad_12_ASD_discovery_cases-case59794L
 
 
 Unknown
 Unknown
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11033.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FAM153B
 
 sanders_11_ASD_discovery_cases-11297.p1
 
 
 Unknown
 Simplex (trio)
 NA
 ATP6V0E1
 
 sanders_11_ASD_discovery_cases-11453.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 ATP6V0E1
 
 sanders_11_ASD_discovery_cases-11543.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11556.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11680.p1
 
 
 Maternal
 Simplex (trio)
 NA
 OR1X1P,CPLX2,FAM153B,THOC3
 
 sanders_11_ASD_discovery_cases-11765.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11825.p1
 
 
 Maternal
 Simplex (trio)
 NA
 ATP6V0E1
 
 sanders_11_ASD_discovery_cases-11835.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11909.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01411
 
 sanders_11_ASD_discovery_cases-12117.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12137.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12478.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12521.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 ATP6V0E1
 
 sanders_11_ASD_discovery_cases-12555.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12558.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12587.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12798.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12939.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13097.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 soueid_16_ASD_discovery_cases-caseBAK42
 
 
 Paternal
 Simplex
 
 FAM153B,THOC3
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036025252_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900222_900222
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900451_900451
 
 
  Unknown
 
 
  RNU6-226P,HRH2
 
engchuan_15_ASD_discovery_controls-controlHABC_900801_900801
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902744_902744
 
 
  Unknown
 
 
 
 
girirajan_13b_ASD_discovery_controls-2105102564
 
 
  Unknown
 
 
  NSD1
 
girirajan_13b_ASD_discovery_controls-9409110993
 
 
  Unknown
 
 
  BRCC3P1,SIMC1
 
krumm_13_ASD_discovery_controls-control12906.s1
 
 
  Maternal
  Simplex
 
  HK3
 
krumm_13_ASD_discovery_controls-control13504.s1
 
 
  Maternal
  Simplex
 
  HK3
 
krumm_13_ASD_discovery_controls-control13922.s1
 
 
  Maternal
  Simplex
 
  CDHR2
 
krumm_15_ASD_discovery_controls-control11869.s1
  Illumina 1MDuo
 
  Paternal
 
 
  BOD1
 
krumm_15_ASD_discovery_controls-control13082.s1
  Illumina 1MDuo
 
  Maternal
 
 
  HK3
 
krumm_15_ASD_discovery_controls-control13504.s1
  1M-Duov3
 
  Maternal
 
 
  HK3
 
krumm_15_ASD_discovery_controls-control14268.s1
  Omni2.5-4v1
 
  Paternal
 
 
  MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,SIMC1,CDHR2
 
sanders_11_ASD_discovery_controls-11033.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FAM153B
 
sanders_11_ASD_discovery_controls-11524.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11556.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FAM153B,SIMC1
 
sanders_11_ASD_discovery_controls-11765.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11835.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12117.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12434.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12478.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12555.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12578.s1
 
 
  Unknown
  Simplex (quad)
  NA
  ATP6V0E1
 
sanders_11_ASD_discovery_controls-13082.s1
 
 
  Maternal
  Simplex (quad)
  NA
  HK3
 
sanders_11_ASD_discovery_controls-13097.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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