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22q11.22-q11.23CNV Type: Duplication


Largest CNV size: 539106 bp

Statistics Box:
Number of Reports: 9



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Deletion
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion-Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 2613000
 0
 1
 1
 guo_18_ASD/DD/ID_discovery_cases
 Patients from 180 families (153 simplex, 27 multiplex) with at least one proband diagnosed with ASD who had been been clinically evaluated at the Seattle Children's Autism Center from SAGE collection
 213
 Patients were ascertained based on the presence of a diagnosis of ASD, intellectual disability (ID) or developmental delay (DD). ASD diagnoses were confirmed by meeting cutoff criteria on the Autism Diagnostic Observation Schedule and DSM-5 criteria; cognitive abilities were assessed using age-appropriate cognitive batteries, including DAS-2, Wechsler tests (WPPSI-IV, WISC-V, WASI-2), and Mullen.
 N/A
 N/A
 1977574
 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
 2019390
 6
 5
 11
 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
 1566306
 0
 1
 1
 kushima_18_SCZ_discovery_cases
 Individuals predominantly recruited from the middle of Honshu Island (Japan)
 2458
 Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
 Median age, 44 years
 55.0% Male
 2029367
 1
 1
 2
 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
 2000000
 0
 1
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 539106
 0
 1
 1
 napoli_17_ASD_discovery_cases
 Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
 133
 Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
 Mean, 6.7 3.0 years
 84.96% Male
 385000
 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
 656280
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 0
 0
 0
 0
 kushima_18_ASD/SCZ_discovery_controls
 Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
 2095
 Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
 Median age, 37 years
 52.0% Male
 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
 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)
 656280
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 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
 guo_18_ASD/DD/ID_discovery_cases
  N/A
 WGS
  Illumina HiSeq X Ten
 dCGH, Genome STRiP, LUMPY, WHAMG, CNVnator, DELLY
 
 aCGH, Sanger sequencing
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
 kushima_18_SCZ_discovery_cases
  Japanese
 aCGH
  NimbleGen 720K, Agilent 400K
 FASST2
 Nexus Copy Number v.9.0
 N/A
 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
 
 
 napoli_17_ASD_discovery_cases
  Italy
 aCGH
  Agilent Human Genome 4x180K
 ADM-2
 Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
 RT-PCR
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 qPCR

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 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
  kushima_18_ASD/SCZ_discovery_controls
  Japanese
  aCGH
  NimbleGen 720K, Agilent 400K
  FASST2
  Nexus Copy Number v.9.0
  N/A
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  girirajan_13a_ASD_discovery_cases-AU004104
 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
 22035601
 24604033
  2568433
 GRCh38
 Duplication
 No
  guo_18_ASD/DD/ID_discovery_cases-caseBK-294-03
 N/A
 M
 ASD
 Neural tube defect
 
 22625125
 24602699
  1977575
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000695
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 22669543
 24563859
  1894317
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001580
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 22660238
 23305976
  645739
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001875
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 22660238
 23305976
  645739
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001961
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 22686122
 24577664
  1891543
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002205
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 22686122
 24577664
  1891543
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002452
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 22651209
 23299955
  648747
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002555
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 22703701
 23285204
  581504
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002707
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 22703701
 24669609
  1965909
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003795
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 22669543
 24563859
  1894317
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004034
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 22686122
 23315617
  629496
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004302
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 22686122
 23315617
  629496
 GRCh38
 Deletion
 Yes
  krumm_13_ASD_discovery_cases-case11090.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11090. SRS score of 83.
 Full-scale IQ (FSIQ) score of 56.
 23059461
 24571977
  1512517
 GRCh38
 Duplication
 Yes
  kushima_18_SCZ_discovery_cases-caseSCZ1006
 53 yrs.
 M
 Schizophrenia
 No additional clinical information reported for this individual. Family history: unknown.
 
 22624794
 24654160
  2029367
 GRCh38
 Duplication
 N/A
  kushima_18_SCZ_discovery_cases-caseSCZ1928
 73 yrs.
 F
 Schizophrenia
 Behavioral/psychiatric evaluation: onset of schizophrenia at 26 years of age (core symptoms include delusions, hallucinations). Physical comorbidities: diabetes mellitus, asthma. Family history: positive for schizophrenia (SCZ).
 IQ > 70
 22638171
 23320336
  682166
 GRCh38
 Deletion
 N/A
  leppa_16_ASD_discovery_cases-AU312702
 N/A
 M
 ASD
 
 
 22705515
 24615033
  1909519
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11090.p1
 NA
 M
 ASD
 NA
 NA
 22632613
 23172002
  539390
 GRCh38
 Duplication
 No
  napoli_17_ASD_discovery_cases-case24
 N/A
 M
 ASD
 Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
 
 22916059
 23301036
  384978
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-caseMM0177-3
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 21328084
 21984363
  656280
 Unknown
 Duplication
 Yes

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 girirajan_13a_ASD_discovery_cases-AU004104
 
 
 Unknown
 Multiplex
 Unknown
 IGLV10-67,IGLVIV-66-1,IGLVV-66,IGLVIV-65,IGLVIV-64,IGLVI-63,IGLV1-62,IGLV8-61,ABHD17AP5,IGLV4-60,SOCS2P2,IGLVIV-59,IGLVV-58,BMP6P1,IGLV6-57,IGLVI-56,IGLV11-55,IGLVIV-53,TOP3BP1,VPREB1,IGLV5-52,IGLV1-51,IGLV1-50,ASH2LP3,IGLV9-49,IGLV5-48,IGLV1-47,ASH2LP2,IGLV7-46,IGLV5-45,IGLV1-44,IGLV7-43,IGLVI-42,IGLVVII-41-1,IGLV1-41,IGLV1-40,ASH2LP1,IGLVI-38,IGLV5-37,IGLV1-36,IGLV7-35,ZNF280A,PRAME,IGLV2-34,IGLV2-33,IGLV3-32,IGLV3-31,IGLV3-30,BCRP4,GGTLC2,IGLV3-29,IGLV2-28,IGLV3-27,IGLV3-26,IGLVVI-25-1,IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,ZNF280B,LL22NC03-63E9.3,POM121L1P,IGLV2-8,IGLL5,GNAZ,RAB36,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,IGLV10-54,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,PRAMENP,RSPH14,CABIN1
 
 guo_18_ASD/DD/ID_discovery_cases-caseBK-294-03
 aCGH, Sanger sequencing
 
 Maternal
 Simplex
 Unknown
 BCRP4,GGTLC2,IGLV3-29,IGLV2-28,IGLV3-27,IGLV3-26,IGLVVI-25-1,IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,POM121L1P,IGLV2-8,IGLL5,GNAZ,RAB36,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,RSPH14,CABIN1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000695
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 IGLV3-26,IGLVVI-25-1,IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,IGLV2-8,IGLL5,GNAZ,RAB36,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,RSPH14,CABIN1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001580
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 IGLV3-29,IGLV2-28,IGLV3-27,IGLV3-26,IGLVVI-25-1,IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,IGLV2-8,IGLL5,GNAZ,RAB36,BCR,RSPH14
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001875
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 IGLV3-29,IGLV2-28,IGLV3-27,IGLV3-26,IGLVVI-25-1,IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,IGLV2-8,IGLL5,GNAZ,RAB36,BCR,RSPH14
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001961
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,IGLV2-8,IGLL5,GNAZ,RAB36,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,RSPH14,CABIN1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002205
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,IGLV2-8,IGLL5,GNAZ,RAB36,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,RSPH14,CABIN1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002452
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 IGLV3-29,IGLV2-28,IGLV3-27,IGLV3-26,IGLVVI-25-1,IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,IGLV2-8,IGLL5,GNAZ,RAB36,BCR,RSPH14
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002555
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,IGLV2-8,IGLL5,GNAZ,RAB36,BCR,RSPH14
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002707
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,IGLV2-8,IGLL5,GNAZ,RAB36,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,POM121L10P,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,BCRP3,RSPH14,CABIN1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003795
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 IGLV3-26,IGLVVI-25-1,IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,IGLV2-8,IGLL5,GNAZ,RAB36,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,RSPH14,CABIN1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004034
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,IGLV2-8,IGLL5,GNAZ,RAB36,BCR,RSPH14
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004302
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,IGLV2-8,IGLL5,GNAZ,RAB36,BCR,RSPH14
 
 krumm_13_ASD_discovery_cases-case11090.p1
 Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
 
 Maternal
 Simplex
 Segregated
 BCRP8,RN7SL263P,FBXW4P1,LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,GNAZ,RAB36,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,RSPH14,CABIN1
 
 kushima_18_SCZ_discovery_cases-caseSCZ1006
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 Unknown
 Unknown
 Unknown
 BCRP4,GGTLC2,IGLV3-29,IGLV2-28,IGLV3-27,IGLV3-26,IGLVVI-25-1,IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,POM121L1P,IGLV2-8,IGLL5,GNAZ,RAB36,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,BCRP3,RSPH14,CABIN1
 
 kushima_18_SCZ_discovery_cases-caseSCZ1928
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 Unknown
 Not simplex
 Unknown
 GGTLC2,IGLV3-29,IGLV2-28,IGLV3-27,IGLV3-26,IGLVVI-25-1,IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,POM121L1P,IGLV2-8,IGLL5,GNAZ,RAB36,BCR,RSPH14
 
 leppa_16_ASD_discovery_cases-AU312702
 
 
 Maternal
 Multiplex
 Not segregated (CNV not present in affected siblings)
 IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,IGLV2-8,IGLL5,GNAZ,RAB36,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,RSPH14,CABIN1
 
 levy_11_ASD_discovery_cases-11090.p1
 
 
 Maternal
 Simplex
 Segregated
 BCRP4,GGTLC2,IGLV3-29,IGLV2-28,IGLV3-27,IGLV3-26,IGLVVI-25-1,IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,POM121L1P,IGLV2-8,IGLL5,GNAZ,RAB36,RSPH14
 
 napoli_17_ASD_discovery_cases-case24
 RT-PCR
 
 Maternal
 
 
 IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,GNAZ,RAB36,BCR,RSPH14
 
 prasad_12_ASD_discovery_cases-caseMM0177-3
 qPCR
 
 Maternal
 Unknown
 Unknown
 RAB36,FBXW4P1,RTDR1,GNAZ,MIR650,IGLL5,BCR
 

Controls

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