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3q25.1CNV Type: Deletion


Largest CNV size: 65324 bp

Statistics Box:
Number of Reports: 8



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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Excess of rare, inherited truncating mutations in autism.
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
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 feliciano_19_ASD_discovery_cases
 ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
 465
 All cases diagnosed with ASD
 Range of age at enrollment, 1.544.6 years
 80.86% Male
 291249
 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
 452667
 1
 0
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 15891
 32
 0
 32
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 39183
 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
 7969
 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
 65324
 31
 0
 31
 sansovic_17_DD/ID/ASD_discovery_cases
 Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
 337
 Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
 Mean, 7 years (range, 1 month-25 years)
 N/A
 776000
 1
 0
 1
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 255732
 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
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 93758
 0
 1
 1
 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
 5751
 1
 0
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 15891
 24
 0
 24
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 39183
 1
 0
 1
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 7969
 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.
 
 65324
 17
 0
 17
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 255732
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 feliciano_19_ASD_discovery_cases
  N/A
 WES
  Illumina HumanCoreExome 550K
 
 CoNIFER, XHMM
 None
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 qPCR
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 sansovic_17_DD/ID/ASD_discovery_cases
  Croatia
 aCGH
  Agilent SurePrint G3 Unrestricted CGH ISCA v2
 
 Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
 None
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None

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
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  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)
  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
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  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
  feliciano_19_ASD_discovery_cases-caseSP0045167
 N/A
 M
 ASD
 Family history: both parents negative for ASD; no mental health diagnoses reported for the mother (father unknown).
 
 151086927
 151378174
  291248
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001960
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 150462960
 150915627
  452668
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11094.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11114.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11250.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11327.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11329.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11485.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11806.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11869.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11940.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11978.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12201.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12360.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12565.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12642.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12701.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 151198426
 151214316
  15891
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12803.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12930.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12948.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13027.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13063.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13071.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13554.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13693.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13830.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13845.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13885.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14012.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 151817365
 151828172
  10808
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14076.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14269.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14327.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14393.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14443.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 151814162
 151828172
  14011
 GRCh38
 Deletion
 Yes
  levy_11_ASD_discovery_cases-12701.p1
 NA
 M
 ASD
 NA
 NA
 151195507
 151234688
  39182
 GRCh38
 Deletion
 No
  prasad_12_ASD_discovery_cases-case50002
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 150841628
 150849596
  7969
 Unknown
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11038.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 82; verbal IQ, 67
 149245608
 149255678
  10071
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11048.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 75; verbal IQ, 58
 150047398
 150056421
  9024
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11059.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 103; verbal IQ, 119
 151794906
 151828253
  33348
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11094.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 105; verbal IQ, 86
 151794906
 151836961
  42056
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11114.p1
 8.8
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
 151794906
 151836961
  42056
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11250.p1
 14.8
 M
 Autism
 NA
 Full-scale IQ, 103; non-verbal IQ, 124; verbal IQ, 86
 151794906
 151828253
  33348
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11262.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 89
 151794906
 151836961
  42056
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11327.p1
 11.3
 M
 ASD
 NA
 Full-scale IQ, 84; non-verbal IQ, 86; verbal IQ, 83
 151794906
 151828253
  33348
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11329.p1
 8.7
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
 151794906
 151828253
  33348
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11387.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 128; verbal IQ 89
 150744146
 150809470
  65325
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11410.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 74; verbal IQ, 40
 151794906
 151828253
  33348
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11484.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 104
 149244254
 149257937
  13684
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11485.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 75; verbal IQ, 63
 151794906
 151828253
  33348
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11555.p1
 9.1
 F
 Aspergers
 NA
 Full-scale IQ, 95; non-verbal IQ, 98; verbal IQ, 91
 149235238
 149249548
  14311
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11806.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 106; verbal IQ, 102
 151794906
 151828253
  33348
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11869.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 104; verbal IQ, 86
 151794906
 151828253
  33348
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11931.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 69; verbal IQ, 51
 150744146
 150788564
  44419
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11940.p1
 8.3
 F
 ASD
 NA
 Full-scale IQ, 114; non-verbal IQ, 109; verbal IQ, 121
 151794906
 151836961
  42056
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11978.p1
 9.1
 F
 ASD
 NA
 Full-scale IQ, 111; non-verbal IQ, 109; verbal IQ, 113
 151794906
 151828253
  33348
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11996.p1
 10
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 54
 150744146
 150809470
  65325
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12201.p1
 13.3
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 131; verbal IQ, 116
 151794906
 151828253
  33348
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12360.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 101
 151794906
 151828253
  33348
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12472.p1
 5.6
 F
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 101; verbal IQ, 112
 149869854
 149870690
  837
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12565.p1
 10.6
 F
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
 151793297
 151843810
  50514
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12642.p1
 11.1
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 91; verbal IQ, 113
 151794906
 151828253
  33348
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12655.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 64; verbal IQ, 28
 150744146
 150809470
  65325
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12701.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 77; verbal IQ, 74
 151197480
 151234501
  37022
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12930.p1
 12.2
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 57
 151794906
 151836961
  42056
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12948.p1
 17.9
 F
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 57; verbal IQ, 81
 151794906
 151828253
  33348
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13063.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 49; non-verbal IQ, 62; verbal IQ, 30
 151793297
 151828253
  34957
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13233.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 84
 150744146
 150809470
  65325
 GRCh38
 Deletion
 No
  sansovic_17_DD/ID/ASD_discovery_cases-case52
 9 yrs.
 F
 Developmental delay/intellectual disability
 Developmental delay/intellectual disability, Dysmorphism
 
 149272883
 150049374
  776492
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case152
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 149319798
 149575529
  255732
 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
  kanduri_15_ASD_discovery_controls-control_split568
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  149340813
  149434570
  93758
  Unknown
  Duplication
  No
  krumm_13_ASD_discovery_controls-control12297.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 12297. SRS score of 45.
 
  150562541
  150568292
  5752
  GRCh38
  Deletion
  No (not tested)
  krumm_15_ASD_discovery_controls-control11114.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  151814162
  151828172
  14011
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11250.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  151814162
  151828172
  14011
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11909.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  151814162
  151828172
  14011
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12201.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  151814162
  151828172
  14011
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12297.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  150562541
  150568292
  5752
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12523.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  151814162
  151828172
  14011
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12701.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  151198426
  151214316
  15891
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12803.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  151814162
  151828172
  14011
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12930.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  151814162
  151828172
  14011
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13016.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  151814162
  151824834
  10673
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13063.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  151814162
  151828172
  14011
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13071.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  151814162
  151828172
  14011
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13152.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  151814162
  151828172
  14011
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13462.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  151814162
  151828172
  14011
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13620.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  151814162
  151828172
  14011
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13649.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  151814162
  151828172
  14011
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13876.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  151814162
  151828172
  14011
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13885.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  151814162
  151828172
  14011
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13927.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  151814162
  151828172
  14011
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13975.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  151814162
  151828172
  14011
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control14076.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  151814162
  151828172
  14011
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control14267.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  151814162
  151828172
  14011
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control14393.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  151814162
  151828172
  14011
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control14443.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  151814162
  151828172
  14011
  GRCh38
  Deletion
  Yes
  levy_11_ASD_discovery_controls-12701.s1
  NA
  M
  Control
  NA
  NA
  151195507
  151234688
  39182
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11114.s1
  11.6
  F
  Control (matched sibling)
  NA
  NA
  151794906
  151836961
  42056
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11250.s1
  12.7
  F
  Control (matched sibling)
  NA
  NA
  151792469
  151833340
  40872
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11262.s1
  4.8
  M
  Control (matched sibling)
  NA
  NA
  151794906
  151833340
  38435
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11329.s1
  6.9
  M
  Control (matched sibling)
  NA
  NA
  151794906
  151833340
  38435
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11526.s1
  7.9
  F
  Control (matched sibling)
  NA
  NA
  151794906
  151843810
  48905
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11634.s1
  9.9
  M
  Control (matched sibling)
  NA
  NA
  150744146
  150788564
  44419
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11909.s1
  5.7
  M
  Control (matched sibling)
  NA
  NA
  151794906
  151828253
  33348
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12184.s1
  10.4
  F
  Control (matched sibling)
  NA
  NA
  150744146
  150797566
  53421
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12201.s1
  12.1
  M
  Control (matched sibling)
  NA
  NA
  151794906
  151833340
  38435
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12523.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  151796802
  151828253
  31452
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12565.s1
  8.6
  M
  Control (matched sibling)
  NA
  NA
  151794906
  151828253
  33348
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12655.s1
  18.3
  M
  Control (matched sibling)
  NA
  NA
  150744146
  150809470
  65325
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12701.s1
  10.4
  M
  Control (matched sibling)
  NA
  NA
  151197480
  151234501
  37022
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12930.s1
  14.8
  M
  Control (matched sibling)
  NA
  NA
  151794906
  151828253
  33348
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13016.s1
  9.5
  F
  Control (matched sibling)
  NA
  NA
  151794906
  151833340
  38435
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13063.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  151792469
  151828253
  35785
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13233.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  150748788
  150797566
  48779
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 feliciano_19_ASD_discovery_cases-caseSP0045167
 
 
 Paternal
 
 
 RNA5SP145,GPR171,SETP11,P2RY13,GPR87,P2RY12,MED12L,P2RY14
 null
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001960
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 SNRPCP3,SIAH2-AS1,TSC22D2,EIF2A,SELENOT,ERICH6,ERICH6-AS1,SIAH2,MINDY4B,SERP1,CLRN1-AS1
 
 krumm_15_ASD_discovery_cases-case11094.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case11114.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case11250.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case11327.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case11329.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case11485.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case11806.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case11869.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case11940.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case11978.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case12201.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case12360.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case12565.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case12642.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case12701.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GPR171,MED12L,P2RY14
 
 krumm_15_ASD_discovery_cases-case12803.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case12930.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case12948.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case13027.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case13063.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case13071.p1
 1M-Duov3
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case13554.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case13693.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case13830.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case13845.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case13885.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case14012.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case14076.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case14269.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case14327.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case14393.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 AADAC,AADACL2-AS1
 
 krumm_15_ASD_discovery_cases-case14443.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 AADAC,AADACL2-AS1
 
 levy_11_ASD_discovery_cases-12701.p1
 
 
 Paternal
 Simplex
 Not segregated
 GPR171,MED12L,P2RY14
 
 prasad_12_ASD_discovery_cases-case50002
 qPCR
 
 Unknown
 Unknown
 Unknown
 WWTR1
 
 sanders_11_ASD_discovery_cases-11038.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 CPHL1P
 
 sanders_11_ASD_discovery_cases-11048.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 PFN2
 
 sanders_11_ASD_discovery_cases-11059.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 AADAC,AADACL2-AS1
 
 sanders_11_ASD_discovery_cases-11094.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 AADAC,AADACL2-AS1
 
 sanders_11_ASD_discovery_cases-11114.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 AADAC,AADACL2-AS1
 
 sanders_11_ASD_discovery_cases-11250.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 AADAC,AADACL2-AS1
 
 sanders_11_ASD_discovery_cases-11262.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 AADAC,AADACL2-AS1
 
 sanders_11_ASD_discovery_cases-11327.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 AADAC,AADACL2-AS1
 
 sanders_11_ASD_discovery_cases-11329.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 AADAC,AADACL2-AS1
 
 sanders_11_ASD_discovery_cases-11387.p1
 
 
 Maternal
 Simplex (trio)
 NA
 SIAH2-AS1,SIAH2
 
 sanders_11_ASD_discovery_cases-11410.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 AADAC,AADACL2-AS1
 
 sanders_11_ASD_discovery_cases-11484.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 CPHL1P
 
 sanders_11_ASD_discovery_cases-11485.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 AADAC,AADACL2-AS1
 
 sanders_11_ASD_discovery_cases-11555.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 CPHL1P
 
 sanders_11_ASD_discovery_cases-11806.p1
 
 
 Paternal
 Simplex (trio)
 NA
 AADAC,AADACL2-AS1
 
 sanders_11_ASD_discovery_cases-11869.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 AADAC,AADACL2-AS1
 
 sanders_11_ASD_discovery_cases-11931.p1
 
 
 Maternal
 Simplex (trio)
 NA
 SIAH2-AS1,SIAH2
 
 sanders_11_ASD_discovery_cases-11940.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 AADAC,AADACL2-AS1
 
 sanders_11_ASD_discovery_cases-11978.p1
 
 
 Paternal
 Simplex (trio)
 NA
 AADAC,AADACL2-AS1
 
 sanders_11_ASD_discovery_cases-11996.p1
 
 
 Paternal
 Simplex (trio)
 NA
 SIAH2-AS1,SIAH2
 
 sanders_11_ASD_discovery_cases-12201.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 AADAC,AADACL2-AS1
 
 sanders_11_ASD_discovery_cases-12360.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 AADAC,AADACL2-AS1
 
 sanders_11_ASD_discovery_cases-12472.p1
 
 
 Both parents
 Simplex (trio)
 NA
 ANKUB1,RNF13
 
 sanders_11_ASD_discovery_cases-12565.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 AADAC,AADACL2-AS1
 
 sanders_11_ASD_discovery_cases-12642.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 AADAC,AADACL2-AS1
 
 sanders_11_ASD_discovery_cases-12655.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 SIAH2-AS1,SIAH2
 
 sanders_11_ASD_discovery_cases-12701.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GPR171,MED12L,P2RY14
 
 sanders_11_ASD_discovery_cases-12930.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 AADAC,AADACL2-AS1
 
 sanders_11_ASD_discovery_cases-12948.p1
 
 
 Paternal
 Simplex (trio)
 NA
 AADAC,AADACL2-AS1
 
 sanders_11_ASD_discovery_cases-13063.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 AADAC,AADACL2-AS1
 
 sanders_11_ASD_discovery_cases-13233.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SIAH2-AS1,SIAH2
 
 sansovic_17_DD/ID/ASD_discovery_cases-case52
 
 
 De novo
 
 
 TM4SF1-AS1,FKBP1AP4,RNU6-1098P,WWTR1-IT1,WWTR1-AS1,RNU6-507P,RNU6-720P,NPM1P29,TMEM183B,PPIAP73,HNRNPA1P24,TM4SF18,TM4SF1,TM4SF4,COMMD2,PFN2,CPHL1P,WWTR1,ANKUB1,RNF13
 
 yin_16_ASD_discovery_cases-case152
 
 
 Unknown
 Unknown
 Unknown
 TM4SF1-AS1,FKBP1AP4,RNU6-1098P,TM4SF18,TM4SF1,TM4SF4,WWTR1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kanduri_15_ASD_discovery_controls-control_split568
 
 
  Unknown
 
 
  WWTR1
 
krumm_13_ASD_discovery_controls-control12297.s1
 
 
  Paternal
  Simplex
 
  EIF2A,SERP1
 
krumm_15_ASD_discovery_controls-control11114.s1
  Illumina 1M
 
  Paternal
 
 
  AADAC,AADACL2-AS1
 
krumm_15_ASD_discovery_controls-control11250.s1
  Illumina 1M
 
  Maternal
 
 
  AADAC,AADACL2-AS1
 
krumm_15_ASD_discovery_controls-control11909.s1
  Illumina 1MDuo
 
  Maternal
 
 
  AADAC,AADACL2-AS1
 
krumm_15_ASD_discovery_controls-control12201.s1
  Illumina 1MDuo
 
  Paternal
 
 
  AADAC,AADACL2-AS1
 
krumm_15_ASD_discovery_controls-control12297.s1
  Illumina 1MDuo
 
  Paternal
 
 
  EIF2A,SERP1
 
krumm_15_ASD_discovery_controls-control12523.s1
  Illumina 1MDuo
 
  Maternal
 
 
  AADAC,AADACL2-AS1
 
krumm_15_ASD_discovery_controls-control12701.s1
  Illumina 1MDuo
 
  Paternal
 
 
  GPR171,MED12L,P2RY14
 
krumm_15_ASD_discovery_controls-control12803.s1
  1M-Duov3
 
  Maternal
 
 
  AADAC,AADACL2-AS1
 
krumm_15_ASD_discovery_controls-control12930.s1
  Illumina 1MDuo
 
  Maternal
 
 
  AADAC,AADACL2-AS1
 
krumm_15_ASD_discovery_controls-control13016.s1
  Illumina 1MDuo
 
  Paternal
 
 
  AADAC,AADACL2-AS1
 
krumm_15_ASD_discovery_controls-control13063.s1
  Illumina 1MDuo
 
  Paternal
 
 
  AADAC,AADACL2-AS1
 
krumm_15_ASD_discovery_controls-control13071.s1
  1M-Duov3
 
  Paternal
 
 
  AADAC,AADACL2-AS1
 
krumm_15_ASD_discovery_controls-control13152.s1
  1M-Duov3
 
  Maternal
 
 
  AADAC,AADACL2-AS1
 
krumm_15_ASD_discovery_controls-control13462.s1
  1M-Duov3
 
  Paternal
 
 
  AADAC,AADACL2-AS1
 
krumm_15_ASD_discovery_controls-control13620.s1
  1M-Duov3
 
  Paternal
 
 
  AADAC,AADACL2-AS1
 
krumm_15_ASD_discovery_controls-control13649.s1
  Omni2.5-4v1
 
  Paternal
 
 
  AADAC,AADACL2-AS1
 
krumm_15_ASD_discovery_controls-control13876.s1
  Omni2.5-4v1
 
  Maternal
 
 
  AADAC,AADACL2-AS1
 
krumm_15_ASD_discovery_controls-control13885.s1
  Omni2.5-4v1
 
  Paternal
 
 
  AADAC,AADACL2-AS1
 
krumm_15_ASD_discovery_controls-control13927.s1
  Omni2.5-4v1
 
  Maternal
 
 
  AADAC,AADACL2-AS1
 
krumm_15_ASD_discovery_controls-control13975.s1
  Omni2.5-4v1
 
  Paternal
 
 
  AADAC,AADACL2-AS1
 
krumm_15_ASD_discovery_controls-control14076.s1
  Omni2.5-4v1
 
  Paternal
 
 
  AADAC,AADACL2-AS1
 
krumm_15_ASD_discovery_controls-control14267.s1
  Omni2.5-4v1
 
  Maternal
 
 
  AADAC,AADACL2-AS1
 
krumm_15_ASD_discovery_controls-control14393.s1
  Omni2.5-4v1
 
  Paternal
 
 
  AADAC,AADACL2-AS1
 
krumm_15_ASD_discovery_controls-control14443.s1
  Omni2.5-4v1
 
  Paternal
 
 
  AADAC,AADACL2-AS1
 
levy_11_ASD_discovery_controls-12701.s1
 
 
  Paternal
  Simplex
  NA
  GPR171,MED12L,P2RY14
 
sanders_11_ASD_discovery_controls-11114.s1
 
 
  Paternal
  Simplex (quad)
  NA
  AADAC,AADACL2-AS1
 
sanders_11_ASD_discovery_controls-11250.s1
 
 
  Maternal
  Simplex (quad)
  NA
  AADAC,AADACL2-AS1
 
sanders_11_ASD_discovery_controls-11262.s1
 
 
  Paternal
  Simplex (quad)
  NA
  AADAC,AADACL2-AS1
 
sanders_11_ASD_discovery_controls-11329.s1
 
 
  Maternal
  Simplex (quad)
  NA
  AADAC,AADACL2-AS1
 
sanders_11_ASD_discovery_controls-11526.s1
 
 
  Paternal
  Simplex (quad)
  NA
  AADAC,AADACL2-AS1
 
sanders_11_ASD_discovery_controls-11634.s1
 
 
  Unknown
  Simplex (quad)
  NA
  SIAH2-AS1,SIAH2
 
sanders_11_ASD_discovery_controls-11909.s1
 
 
  Maternal
  Simplex (quad)
  NA
  AADAC,AADACL2-AS1
 
sanders_11_ASD_discovery_controls-12184.s1
 
 
  Unknown
  Simplex (quad)
  NA
  SIAH2-AS1,SIAH2
 
sanders_11_ASD_discovery_controls-12201.s1
 
 
  Paternal
  Simplex (quad)
  NA
  AADAC,AADACL2-AS1
 
sanders_11_ASD_discovery_controls-12523.s1
 
 
  Maternal
  Simplex (quad)
  NA
  AADAC,AADACL2-AS1
 
sanders_11_ASD_discovery_controls-12565.s1
 
 
  Maternal
  Simplex (quad)
  NA
  AADAC,AADACL2-AS1
 
sanders_11_ASD_discovery_controls-12655.s1
 
 
  Unknown
  Simplex (quad)
  NA
  SIAH2-AS1,SIAH2
 
sanders_11_ASD_discovery_controls-12701.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GPR171,MED12L,P2RY14
 
sanders_11_ASD_discovery_controls-12930.s1
 
 
  Maternal
  Simplex (quad)
  NA
  AADAC,AADACL2-AS1
 
sanders_11_ASD_discovery_controls-13016.s1
 
 
  Paternal
  Simplex (quad)
  NA
  AADAC,AADACL2-AS1
 
sanders_11_ASD_discovery_controls-13063.s1
 
 
  Paternal
  Simplex (quad)
  NA
  AADAC,AADACL2-AS1
 
sanders_11_ASD_discovery_controls-13233.s1
 
 
  Unknown
  Simplex (quad)
  NA
  SIAH2-AS1,SIAH2
 

No Animal Model Data Available
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