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Xp21.3CNV Type: Deletion-Duplication


Largest CNV size: 311050 bp

Statistics Box:
Number of Reports: 12



Summary Information

Summary statement in development

Additional Locus Information

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Deletion
Etiological yield of SNP microarrays in idiopathic intellectual disability.
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Duplication
NA
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
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication

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
 547407
 1
 3
 4
 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
 395739
 0
 2
 2
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 104138
 1
 0
 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
 
 
 95901
 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
 116147
 2
 0
 2
 roberts_13_ASD/DD/ID_discovery_cases
 Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
 215
 ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
 Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
 65.12% Male
 38000
 1
 0
 1
 rosenfeld_10_ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 1461
 ASD
 
 
 160964
 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
 311050
 11
 1
 12
 utine_14_DD/ID/ASD_discovery_cases
 Patients referred for genetic evaluation for developmental delay or intellectual disability, with or without accompanying dysmorphic features, single or multiple malformations, growth disorder, behavior disorder and/or autism, and family history of ID/autism (Hacettepe University, Ankara, Turkey)
 100
 Developmental delay (74 cases with prominent motor delay, 86 with delayed mental milestones; 67 with both) and/or intellectual disability (18 cases with mild ID, 48 with moderate ID, 34 with severe ID); 36 cases with problems in social interactions (considered as "autistic features); 30 cases with history of at least one seizures; 89 cases with brain imaging (normal in 61 cases).
 Range, 2-22 yrs. (mean age, 10.8 yrs.)
 75% Male
 30000
 0
 1
 1
 willemsen_12_DD/ID_discovery_cases
 Individuals referred between Jan. 2003 and August 2010 to diagnostic center at Dept. of Human Genetics, Radboud Univ. Mijmegen Medical Centre, Nijmegen, The Netherlands for genome-wide array analysis (emphasis on X chromosome CNVs)
 4407
 Majority of cases: indication of developmental delay/intellectual disability [with or without other neuropsychiatric disorders (ASD, ADHD, etc.) and/or congenital anomalies]. Minority of cases: congenital anomalies or behavioral problems without DD/ID.
 2/3 of cases: age range of 1-18 yrs.
 54.5% Male
 800000
 1
 0
 1
 yuen_17_ASD_discovery_cases
 ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
 2626
 ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
 N/A
 78.71% Male
 550499
 0
 1
 1
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
  NA NA
 Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
 2691
 1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
 
 76.37% Male
 545974
 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
 421799
 0
 7
 7
 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
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 116147
 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.
 
 293985
 9
 7
 16

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 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
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 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)
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 roberts_13_ASD/DD/ID_discovery_cases
  N/A
 aCGH
  105K or 180K oligonucleotide microarray
 
 Nexus Copy Number (BioDiscovery)
 BACs aCGH or FISH
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 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
 
 
 utine_14_DD/ID/ASD_discovery_cases
  Turkey
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.0
 RT-PCR
 willemsen_12_DD/ID_discovery_cases
  Netherlands
 aCGH, array SNP
  Agilent 32K BAC array, Affymetrix 250K
 
 CNAG V2.0 (SNP array)
 None
 yuen_17_ASD_discovery_cases
  N/A
 WGS
  Complete Genomics, Illumina HiSeq 2000, HiSeq X
 
 
 aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
  74.1% European
 Array SNP
  Affymetrix CytoScan HD
 
 Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
 RT-qPCR or WGS

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 

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-case13165_1823
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 28229214
 28305124
  75911
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13211_2323
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 27012361
 27062840
  50480
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5126_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 29003521
 29550928
  547408
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5418_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 28229214
 28325114
  95901
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001880
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 28759823
 29094411
  334589
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002330
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 28415968
 28811707
  395740
 GRCh38
 Duplication
 Yes
  marshall_08_ASD_discovery_cases-MM0087-003
 NA
 M
 ASD
 NA
 NA
 25738489
 25842626
  104138
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5418_3
 NA
 M
 ASD
 NA
 NA
 28229214
 28325114
  95901
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case6032_4
 NA
 F
 Autism
 High-functioning autism, language delay, normal physical exam, no epilepsy
 Normal IQ
 28732962
 28751750
  18789
 Unknown
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case59962-L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 25656186
 25772332
  116147
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case60539L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 25105764
 25176808
  71045
 Unknown
 Deletion
 No
  roberts_13_ASD/DD/ID_discovery_cases-ASDcase13
 11 yrs.
 M
 ASD
 Dysmorphism
 
 28791772
 28829653
  37882
 GRCh38
 Deletion
 Yes
  rosenfeld_10_ASD_discovery_cases-case27668
 NA
 NA
 ASD
 NA
 NA
 28801975
 28962939
  160964
 Unknown
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11277.p1
 10.2
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 31
 28570422
 28576583
  6162
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11363.p1
 5.9
 F
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 78; verbal IQ 77
 28076809
 28076914
  106
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11363.p1
 5.9
 F
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 78; verbal IQ 77
 27262436
 27295233
  32798
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11740.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 89; verbal IQ, 115
 26227991
 26437132
  209142
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11846.p1
 15.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
 27903762
 27905455
  1694
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11916.p1
 4.8
 F
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 107
 25741474
 26052524
  311051
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12118.p1
 12.6
 F
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 74; verbal IQ, 102
 28076809
 28076914
  106
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12130.p1
 8.4
 F
 Autism
 NA
 Full-scale IQ, 54; non-verbal IQ, 55; verbal IQ, 62
 28076809
 28081458
  4650
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12170.p1
 7.8
 F
 ASD
 NA
 Full-scale IQ, 80; non-verbal IQ, 85; verbal IQ, 77
 28076809
 28076914
  106
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12691.p1
 10.9
 F
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 32; verbal IQ, 39
 28570422
 28576583
  6162
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12827.p1
 5.5
 F
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 76; verbal IQ, 78
 26424877
 26442074
  17198
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13056.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 65; verbal IQ, 58
 27903762
 27905455
  1694
 GRCh38
 Deletion
 No
  utine_14_DD/ID/ASD_discovery_cases-case12
 6 yrs.
 M
 Developmental delay and autism/autistic features
 Referred at age of 4.5 years for absence of speech and independent walking. Birth/neonatal history: normal. Developmental milestones: walked with support at age of 4 years. Epilepsy/seizures: seizures since age of 15 days. Language and communication evaluation: had only 3-4 words at age of 6 years. Motor and musculoskeletal evaluation: able to walk at age of 6 years. Behavioral/psychiatric evaluation: autism/autistic features. Brain imaging: corpus callosum agenesis observed. Dysmorphic features: deep-set eyes, prominent nasal bridge, short nose with anteverted nares, smooth philtrum with thin upper lip, right-sided epicanthal fold. Growth parameters: microcephaly (head circumference of 44 cm; <3rd %ile) and short stature (height of 90 cm; <3rd %ile). Family history: born to consanguineous parents (first cousins).
 Moderate DD/ID (mean area of delay/disability: global)
 N/A
 N/A
  30000
 Unknown
 Duplication
 Yes
  willemsen_12_DD/ID_discovery_cases-case27
 
 M
 Premature death
 IUD
 
 25821962
 26621962
  800001
 GRCh38
 Deletion
 No
  yuen_17_ASD_discovery_cases-case2-0264-004
 N/A
 N/A
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
 
 29001884
 29552383
  550500
 GRCh38
 Duplication
 Yes
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-0264-003
  NA NA
 N/A
 M
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 29005528
 29551501
  545974
 GRCh38
 Duplication
 Yes

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-controlB438042_1007853841
  N/A
  N/A
  Control
  No previous psychiatric history
 
  28230617
  28302629
  72013
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB479722_1007875261
  N/A
  N/A
  Control
  No previous psychiatric history
 
  28213017
  28302629
  89613
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB675955_1007841005
  N/A
  N/A
  Control
  No previous psychiatric history
 
  25213394
  25635193
  421800
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB856421_1007844843
  N/A
  N/A
  Control
  No previous psychiatric history
 
  28090204
  28313749
  223546
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB892612_1007874849
  N/A
  N/A
  Control
  No previous psychiatric history
 
  26893158
  27239073
  345916
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900156_900156
  N/A
  N/A
  Control
  No previous psychiatric history
 
  27350954
  27407200
  56247
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901048_901048
  N/A
  N/A
  Control
  No previous psychiatric history
 
  28230617
  28302629
  72013
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11397.s1
  8.3
  F
  Control (matched sibling)
  NA
  NA
  28076809
  28076914
  106
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11433.s1
  11.8
  F
  Control (matched sibling)
  NA
  NA
  28230617
  28302629
  72013
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11808.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  28230617
  28302629
  72013
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11812.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  28230617
  28303579
  72963
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11872.s1
  6
  F
  Control (matched sibling)
  NA
  NA
  26342993
  26380902
  37910
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11916.s1
  6.9
  F
  Control (matched sibling)
  NA
  NA
  25741474
  26035459
  293986
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11963.s1
  6.1
  F
  Control (matched sibling)
  NA
  NA
  28076809
  28090204
  13396
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12030.s1
  8.2
  F
  Control (matched sibling)
  NA
  NA
  26291032
  26393560
  102529
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12032.s1
  7.2
  F
  Control (matched sibling)
  NA
  NA
  28076809
  28083660
  6852
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12121.s1
  6.5
  F
  Control (matched sibling)
  NA
  NA
  28076809
  28081458
  4650
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12170.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  28076809
  28076914
  106
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12424.s1
  6.2
  F
  Control (matched sibling)
  NA
  NA
  26342993
  26386706
  43714
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12494.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  29115026
  29143137
  28112
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12578.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  28076809
  28076914
  106
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12681.s1
  12.8
  F
  Control (matched sibling)
  NA
  NA
  26342993
  26407694
  64702
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13183.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  26342993
  26407694
  64702
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 engchuan_15_ASD_discovery_cases-case13165_1823
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case13211_2323
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5126_4
 
 
 Unknown
 
 
 IL1RAPL1
 
 engchuan_15_ASD_discovery_cases-case5418_3
 
 
 Unknown
 
 
 
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001880
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RNA5SP500,IL1RAPL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002330
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR6134,IL1RAPL1
 
 marshall_08_ASD_discovery_cases-MM0087-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 
 
 pinto_10_ASD_discovery_cases-case5418_3
 Agilent1M
 
 maternal
 NA
 NA
 
 
 pinto_10_ASD_discovery_cases-case6032_4
 qPCR
 
 paternal
 Multiplex (maternal half-sib with autism)
 Not segregated
 IL1RAPL1 intronic
 
 prasad_12_ASD_discovery_cases-case59962-L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case60539L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 roberts_13_ASD/DD/ID_discovery_cases-ASDcase13
 BACs aCGH or FISH
 
 Unknown
 Unknown
 Unknown
 IL1RAPL1
 
 rosenfeld_10_ASD_discovery_cases-case27668
 FISH
 
 Unknown
 Unknown
 Unknown
 IL1RAPL1
 
 sanders_11_ASD_discovery_cases-11277.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11363.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11363.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11740.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11846.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11916.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12118.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12130.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12170.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12691.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12827.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13056.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 utine_14_DD/ID/ASD_discovery_cases-case12
 RT-PCR
 
 De novo
 Unknown
 Possibly segregated
 IL1RAPL1
 
 willemsen_12_DD/ID_discovery_cases-case27
 
 
 Maternal
 
 
 MAGEB18,MAGEB6B,MAGEB6,MAGEB5,VENTXP1
 
 yuen_17_ASD_discovery_cases-case2-0264-004
 Illumina1M
 
 Maternal
 Multiplex
 Not segregated
 IL1RAPL1
 
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-0264-003
 RT-qPCR or WGS
 
 Maternal
 
 
 IL1RAPL1
 null

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB438042_1007853841
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB479722_1007875261
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB675955_1007841005
 
 
  Unknown
 
 
  RPP40P1
 
engchuan_15_ASD_discovery_controls-controlB856421_1007844843
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB892612_1007874849
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900156_900156
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901048_901048
 
 
  Unknown
 
 
 
 
sanders_11_ASD_discovery_controls-11397.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11433.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11808.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11812.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11872.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11916.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11963.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12030.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12032.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12121.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12170.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12424.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12494.s1
 
 
  Maternal
  Simplex (quad)
  NA
  IL1RAPL1
 
sanders_11_ASD_discovery_controls-12578.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12681.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13183.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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