HELP     Sign In

17q21.32CNV Type: Deletion-Duplication


Largest CNV size: 341445 bp

Statistics Box:
Number of Reports: 13



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
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Duplication
Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 celestino-soper_11_ASD_discovery_cases
 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
 99
 ASD
 
 87.88% Male
 60541
 0
 2
 2
 davis_12_ASD_discovery_cases
 Proband from simplex family recruited and assessed by Autism Center of Excellence (ACE) at the University of Illinois-Chicago
 1
 Diagnosis of autistic disorder at 43 months of age. Diagnostic evaluation performed using ADI-R and ADOS-WPS module 3. Additional measures: Repetitve Behavior Scale-Revised (RBS-R) and Aberrant Behavior Checklist-Community Version (ABC-CV) for repetitive behaviors; Social Communication Questionnaire (SCQ) & Social Responsiveness Scale (SRS) for social interactions; Clinical Evaluation of Language Fundamentals (CELF) for language ability; Wechsler Abbreviated Scale of Intelligence (WASI) for verbal and nonverbal abilities; Vineland Adaptive Behavior Scales (VABS-II) for adaptive functioning.
 12 yrs.
 Male
 138678
 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
 53540
 0
 2
 2
 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.
 
 
 322114
 0
 2
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 1314
 1
 0
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 341445
 0
 2
 2
 lintas_17_ASD_discovery_cases
 ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children
 41
 Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.
 N/A
 87.80% Male
 248671
 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
 
 
 53541
 0
 1
 1
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 16511
 1
 1
 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
 23529
 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
 45309
 1
 1
 2
 tropeano_13_DD/ASD_discovery_cases
 Patients referred to Guy's and St. Thomas NHS Foundation Trust from region pediatricians and other health specialists, as well as from genetics centers (UK).
 10397
 Range of diagnoses including developmental delay (DD), intellectual disability, ASD (~1400 patients), ADHD, specific developmental delays such as speech or language delay, or multiple congenital anomalies/birth defects.
 N/A
 63.4% Male
 68462
 1
 0
 1
 vaags_11_ASD_replication_cases_2
 Replication cohort consisting of patients referred to the Mayo Clinic
 1796
 Autism or pervasive developmental disorder (PDD)
 NA
 NA
 82389
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 53540
 0
 5
 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.
 
 
 322114
 0
 0
 0
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 0
 0
 0
 0
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 0
 0
 0
 0
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 0
 0
 0
 0
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 23529
 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.
 
 35667
 1
 0
 1
 tropeano_13_DD/ASD_discovery_controls
 Controls comprehensively screened for a lifetime absence of psychiatric disorder (n=459) and from the Wellcome Trust Case-Control Consortium Phase II (WTCCC2; n=5,619), as well as control data from two previously published studies by Shaikh et al. (n=2026) and Cooper et al. (n=3173)
 11277
 Control
 N/A
 N/A
 N/A
 N/A
 N/A
 N/A

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 aCGH (Agilent 4x180K or 8x60K)
 davis_12_ASD_discovery_cases
  NA
 Solid phase hybridization
  Illumina Human 1M-Duo DNA Analysis Bead Chip
 PennCNV, QuantiSNP, Gnosis
 CNVision
 None
 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
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 aCGH (Agilent 244K)
 lintas_17_ASD_discovery_cases
  Italy
 aCGH
  Agilent Human Genome CGH SurePrint G3 4x180K
 ADM-2
 Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
 Validation by visual inspection, RT-PCR, or PCR
 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
 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
 
 
 tropeano_13_DD/ASD_discovery_cases
  70% Caucasian, 15% African, 15% other/mixed ancestry
 aCGH
  Agilent 60K
 
 Feature Extraction, DNA Analytics
 None
 vaags_11_ASD_replication_cases_2
  NA
 aCGH
  Agilent 44K & 244K
 
 
 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
 
 
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  None
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
 
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  tropeano_13_DD/ASD_discovery_controls
  77% Caucasian, 8.5% African, 14.5% other/mixed ancestry
  Solid phase hybridization
  Illumina HumanHap 610-Quad (screened controls); Illumina 1M (WTCCC2 controls); Illumina HumanHap 550 (Shaikh et al. data); Illumina HumanHap 500K, 650&, and 610-Quad (Cooper et al. data)
 
 
  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
  celestino-soper_11_ASD_discovery_cases-11425
 NA
 M
 ASD
 NA
 NA
 47532100
 47592641
  60542
 GRCh38
 Duplication
 Yes
  celestino-soper_11_ASD_discovery_cases-11523
 NA
 M
 ASD
 NA
 NA
 47538829
 47593229
  54401
 GRCh38
 Duplication
 Yes
  davis_12_ASD_discovery_cases-case1
 12 yrs.
 M
 Autism
 Diagnosis of autistic disorder at 43 months of age. ADI-R evaluation: impairments in reciprocal social interaction, 23; qualitative abnormalities in communication, 20; restricted and repetitive patterns of behavior, 6; abnormalitiy of development evident at or before 36 months, 3. ADOS evaluation: communication, 4; social, 7; social affect, 7; restricted repetitive behaviors, 3; calibrated severity score, 6. Birth/neonatal history: 38-week gestation (birth weight 3.6 kg); feeding difficulties, generalized hypotonia, and weakness of left leg and arm noted during infancy. Developmental milestones: loss of previously normal language development at 19 months, with language loss persisting for 11 months; gross motor milestones wihtin normal limits (dragged left leg while learning to crawl). Language and communication evaluation: Clinical evaluation of language fundamentals (CELF-4), 109 (73rd %ile); Social communication questionnaire, 26; primarily verbal communication (fluent and conversational language that could be repetitive, usage of overly formal words in conservation, atypical tone and prosody); limited use of gestures and impairments in nonverbal communication. Motor and musculoskeletal evaluation: pattern of asymmetic physical development consistent with mild left hemiparesis; stretch reflexes 2+ and asymmetrical throughout; left side of face less mobile than right. Behavioral/psychiatric evaluation: Repetitive behavior scale-revised, 6; Aberrant behavior checklist-community, 27; Childhood routines inventory (version 1.2), 44; notable behavior patterns include avoidance of eye contact, staring at hands, preference for certain foods and routines, sensitivity to particular pieces of clothing, irritation by other people, conservations about limited range of topics, preference for solitary activities, talking to himself loudly, engagement in reciprocal social smiling, exhibition of limited insight into others' experiences and narrow understanding of the nature of interpersonal relationships; exhibition of multiple sensory-seeking behaviors and sensitivity to certain stimuli and loud noises. Epilepsy/seizures: no report of clinical seizure. EEG: normal at 22 months; repeat EEG at 5 years showed left temporal and frontal epileptiform waves. Brain imaging: brain MRI normal at 22 months. Growth parameters: head circumference of 56.5 cm (98th %ile; in macrocephalic range). Family history: sister with social awkwardness; father with social isolation/anxiety and elevated broader autism phenotype questionnaire aloofness score (3.75); mother reported six miscarriages and one ectopic pregnancy prior to conception of proband.
 Vineland adaptive behavior scale, 98 (45th %ile).
 46565999
 46704811
  138813
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case1258_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 48649927
 48703467
  53541
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4150_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49050885
 49087874
  36990
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si186
 11
 M
 Autism
 ADOS score: 5. Vineland composite score: 76.
 No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 86; Non-verbal IQ, 78.
 46685186
 46989142
  303957
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si186
 11
 M
 Autism
 ADOS score: 5. Vineland composite score: 76.
 No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 86; Non-verbal IQ, 78.
 46683054
 47005349
  322296
 GRCh38
 Duplication
 No
  krumm_15_ASD_discovery_cases-case11129.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 48848063
 48849377
  1315
 GRCh38
 Deletion
 Yes
  levy_11_ASD_discovery_cases-11535.p1
 NA
 M
 ASD
 NA
 NA
 48425859
 48450611
  24753
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11982.p1
 NA
 M
 ASD
 NA
 NA
 46702638
 47044265
  341628
 GRCh38
 Duplication
 Yes
  lintas_17_ASD_discovery_cases-case5.1
 N/A
 M
 Autism
 No additional clinical information available
 
 48992380
 49241051
  248672
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case1258_4
 NA
 M
 ASD
 NA
 NA
 48649927
 48703467
  53541
 GRCh38
 Duplication
 Yes
  poultney_13_ASD_discovery_cases-case98HI0380A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU011504; NDAR ID NDAR_INVHB385CJ2)
 
 48841706
 48856189
  14484
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case99HI0802A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU055504; NDAR ID NDAR_INVXM069XZB)
 
 48894370
 48910880
  16511
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case85274L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 43858948
 43882476
  23529
 Unknown
 Duplication
 No
  sanders_11_ASD_discovery_cases-11129.p1
 4.7
 F
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
 48846022
 48851605
  5584
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12097.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 115; verbal IQ, 145
 48658158
 48703467
  45310
 GRCh38
 Duplication
 No
  tropeano_13_DD/ASD_discovery_cases-case41
 10 mos.
 F
 ASD and MCA
 ASD, anomalous tracheobronchial tree, congenital heart defect, imperforate anus, IUGR, motor delay, proportionate microcepahly, rectovestibular fistula, very small, ventricular septal defect
 
 47361433
 47429895
  68463
 GRCh38
 Deletion
 No
  vaags_11_ASD_replication_cases_2-probandF4-003
 3 yrs. 6 mos.
 M
 Autism
 Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay
 Leiter-R IQ: incomplete (test attempted but proband failed to complete)
 46602728
 46685252
  82525
 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-controlB178854_1007854183
  N/A
  N/A
  Control
  No previous psychiatric history
 
  48649927
  48703467
  53541
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB495422_1007852884
  N/A
  N/A
  Control
  No previous psychiatric history
 
  48658158
  48703467
  45310
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB666406_1007854768
  N/A
  N/A
  Control
  No previous psychiatric history
 
  48658158
  48703467
  45310
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB884573_1007852580
  N/A
  N/A
  Control
  No previous psychiatric history
 
  48658158
  48703467
  45310
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900164_900164
  N/A
  N/A
  Control
  No previous psychiatric history
 
  48658158
  48703467
  45310
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12661.s1
  11.2
  F
  Control (matched sibling)
  NA
  NA
  48835189
  48870856
  35668
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 celestino-soper_11_ASD_discovery_cases-11425
 aCGH (Agilent 4x180K or 8x60K)
 
 Inherited
 Simplex
 NA
 NPEPPS
 
 celestino-soper_11_ASD_discovery_cases-11523
 aCGH (Agilent 4x180K or 8x60K)
 
 Unknown
 Simplex
 NA
 NPEPPS
 
 davis_12_ASD_discovery_cases-case1
 
 
 Unknown
 Simplex
 Unknown
 ARL17A,NSF
 
 engchuan_15_ASD_discovery_cases-case1258_4
 
 
 Unknown
 
 
 RPL9P28,LINC02086
 
 engchuan_15_ASD_discovery_cases-case4150_1
 
 
 Unknown
 
 
 B4GALNT2P1,IGF2BP1
 
 girirajan_11_ASD_discovery_cases-Si186
 
 
 Unknown
 Simplex
 
 RPS7P11,LINC01974,RNU6ATAC3P,MIR5089,RPRML,WNT9B,LRRC37A17P,NSF,WNT3,GOSR2
 
 girirajan_11_ASD_discovery_cases-Si186
 
 
 De novo
 Simplex
 
 RPS7P11,LINC01974,RNU6ATAC3P,MIR5089,RPRML,WNT9B,LRRC37A17P,NSF,WNT3,GOSR2
 
 krumm_15_ASD_discovery_cases-case11129.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 CALCOCO2
 
 levy_11_ASD_discovery_cases-11535.p1
 
 
 Paternal
 Simplex
 Segregated
 SKAP1
 
 levy_11_ASD_discovery_cases-11982.p1
 aCGH (Agilent 244K)
 
 De novo
 Simplex
 Segregated
 RPS7P11,LINC01974,RNU6ATAC3P,MIR5089,RPRML,RN7SL270P,WNT9B,LRRC37A17P,NSF,WNT3,GOSR2
 
 lintas_17_ASD_discovery_cases-case5.1
 Validation by visual inspection, RT-PCR, or PCR
 
 Paternal
 Multiplex
 Not segregated (CNV only observed in 1/2 affected siblings)
 RNU6-826P,GNGT2,PHOSPHO1,B4GALNT2P1,ABI3,IGF2BP1,B4GALNT2
 
 pinto_10_ASD_discovery_cases-case1258_4
 Illumina550;Affy5.0
 
 paternal
 NA
 NA
 RPL9P28,LINC02086
 
 poultney_13_ASD_discovery_cases-case98HI0380A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 CALCOCO2
 
 poultney_13_ASD_discovery_cases-case99HI0802A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ATP5MC1,UBE2Z,SUMO2P17
 
 prasad_12_ASD_discovery_cases-case85274L
 
 
 Unknown
 Unknown
 Unknown
 SKAP1
 
 sanders_11_ASD_discovery_cases-11129.p1
 
 
 Maternal
 Simplex (trio)
 NA
 CALCOCO2
 
 sanders_11_ASD_discovery_cases-12097.p1
 
 
 Maternal
 Simplex (trio)
 NA
 RPL9P28,LINC02086
 
 tropeano_13_DD/ASD_discovery_cases-case41
 
 
 Maternal
 
 
 EFCAB13
 
 vaags_11_ASD_replication_cases_2-probandF4-003
 
 
 Unknown
 Simplex
 Unknown
 NSF
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB178854_1007854183
 
 
  Unknown
 
 
  RPL9P28,LINC02086
 
engchuan_15_ASD_discovery_controls-controlB495422_1007852884
 
 
  Unknown
 
 
  RPL9P28,LINC02086
 
engchuan_15_ASD_discovery_controls-controlB666406_1007854768
 
 
  Unknown
 
 
  RPL9P28,LINC02086
 
engchuan_15_ASD_discovery_controls-controlB884573_1007852580
 
 
  Unknown
 
 
  RPL9P28,LINC02086
 
engchuan_15_ASD_discovery_controls-controlHABC_900164_900164
 
 
  Unknown
 
 
  RPL9P28,LINC02086
 
sanders_11_ASD_discovery_controls-12661.s1
 
 
  Unknown
  Simplex (quad)
  NA
  CALCOCO2
 

No Animal Model Data Available
HELP
Copyright © 2017 MindSpec, Inc.