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2p25.1CNV Type: Deletion-Duplication


Largest CNV size: 45231 bp

Statistics Box:
Number of Reports: 12


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
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Deletion
Excess of rare, inherited truncating mutations in autism.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion-Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
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
 brandler_18_ASD_discovery_cases
 Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
 880
 REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
 N/A
 N/A
 6900
 1
 1
 2
 egger_14_ASD_discovery_cases
 ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
 73
 Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
 N/A
 80.82% Male
 265213
 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
 46656
 0
 1
 1
 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
 141708
 0
 1
 1
 gai_11_ASD_discovery_cases
 Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
 631
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 34383
 1
 0
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 298026
 1
 0
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 81737
 0
 1
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 45231
 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
 
 
 28448
 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
 40602
 21
 5
 26
 talkowski_12_DD_discovery_cases
 Subjects from Signature Genomics, LabCorp, DECIPHER, or ISCA with CNVs overlapping LINC00299, a single CNV<10 Mb, and no other pathogenic CNVs.
 4
 Developmental delay (DD)
 NA
 NA
 60000
 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
 68333
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 egger_14_ASD_discovery_controls
 CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
 2357
 Control
 N/A
 N/A
 0
 0
 0
 0
 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
 0
 0
 0
 0
 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_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 158370
 0
 2
 2
 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)
 243289
 0
 1
 1
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 263667
 20
 3
 23
 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
 68333
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brandler_18_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq X10 or HiSeq 2500
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 PCR, array SNP
 egger_14_ASD_discovery_cases
  68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
 Array SNP
  Affymetrix 6.0
 Birdsuite, iPattern, Affymetrix Genotyping Console
 
 qPCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 feliciano_19_ASD_discovery_cases
  N/A
 WES
  Illumina HumanCoreExome 550K
 
 CoNIFER, XHMM
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 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
 
 
 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)
 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
 
 
 talkowski_12_DD_discovery_cases
  NA
 N/A
  N/A
 N/A
 N/A
 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
  egger_14_ASD_discovery_controls
  European
  N/A
  N/A
 
 
 
  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
 
  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
 
 
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  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
  brandler_18_ASD_discovery_cases-caseREACH000327
 N/A
 M
 PDD-NOS
 Case from REACH cohort
 
 8668071
 8674970
  6900
 GRCh38
 Duplication
 No
  brandler_18_ASD_discovery_cases-caseREACH000336
 N/A
 F
 ASD
 Case from REACH cohort
 
 9229605
 9235252
  5648
 GRCh38
 Deletion
 Yes
  egger_14_ASD_discovery_cases-caseA62
 18 yrs. (born 1996)
 M
 ASD
 Diagnosis: Asperger syndrome. Co-morbidities/additional features: gender identity/transgender. Family history: none reported. CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
 High-normal IQ
 10151287
 10416500
  265214
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case14158_2580
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11099308
 11145964
  46657
 GRCh38
 Duplication
 No
  feliciano_19_ASD_discovery_cases-caseSP0001491
 N/A
 M
 ASD
 Family history: both parents negative for ASD; no mental health diagnoses reported for the father (mother unknown).
 
 9368425
 9510132
  141708
 GRCh38
 Duplication
 No
  gai_11_ASD_discovery_cases-AU1157303
 
 
 Autism
 
 
 11750910
 11785292
  34383
 Unknown
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003891
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 10216979
 10515005
  298027
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14080.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 10047649
 10129386
  81738
 GRCh38
 Duplication
 Yes
  levy_11_ASD_discovery_cases-11052.p1
 NA
 M
 ASD
 NA
 NA
 11651257
 11696487
  45231
 GRCh38
 Duplication
 No
  pinto_10_ASD_discovery_cases-case13082_963
 NA
 M
 Autism
 Verbal
 Normal IQ
 11712589
 11741036
  28448
 Unknown
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11000.p1
 9.2
 M
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 78; verbal IQ, 50
 8031471
 8040495
  9025
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11041.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 39; verbal IQ, 60
 7090857
 7092347
  1491
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11052.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 97; verbal IQ, 90
 11652731
 11693333
  40603
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11057.p1
 8.7
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
 11879024
 11881018
  1995
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11106.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 65; verbal IQ, 51
 11879024
 11881018
  1995
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11142.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 44; non-verbal IQ, 53; verbal IQ, 31
 10745972
 10750079
  4108
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11234.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 117; verbal IQ, 115
 7090857
 7092347
  1491
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11256.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 127; verbal IQ, 98
 11879024
 11881018
  1995
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11266.p1
 4.3
 F
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 78
 8703293
 8718606
  15314
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11330.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 94; verbal IQ, 80
 11257684
 11259708
  2025
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11409.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 101; verbal IQ 90
 7089039
 7092347
  3309
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11453.p1
 8.8
 M
 ASD
 NA
 Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 109
 12431537
 12451569
  20033
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11508.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 83; verbal IQ, 75
 12542939
 12553770
  10832
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11537.p1
 14.3
 F
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 66; verbal IQ, 63
 11879024
 11888167
  9144
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11537.p1
 14.3
 F
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 66; verbal IQ, 63
 12543871
 12553770
  9900
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11587.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 111; verbal IQ, 144
 10745972
 10750079
  4108
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11723.p1
 6.9
 M
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 105
 12543871
 12553770
  9900
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11780.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 112; verbal IQ, 120
 8464960
 8504302
  39343
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12077.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 52
 8017028
 8021919
  4892
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12102.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 45; non-verbal IQ, 52; verbal IQ, 38
 7291185
 7299259
  8075
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12457.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 97; verbal IQ, 103
 11879024
 11881018
  1995
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12539.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 104
 11879024
 11881018
  1995
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12892.p1
 6.3
 M
 ASD
 NA
 Full-scale IQ, 69; non-verbal IQ, 79; verbal IQ, 63
 7090857
 7092347
  1491
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12964.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 38; non-verbal IQ, 48; verbal IQ, 28
 7090857
 7092347
  1491
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13153.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 86; verbal IQ, 59
 8031471
 8040495
  9025
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13301.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 95; verbal IQ, 124
 12545795
 12553770
  7976
 GRCh38
 Deletion
 No
  talkowski_12_DD_discovery_cases-caseL1
 43 yrs.
 F
 Developmental delay
 History of speech delay, bouts of confusion and abnormal behavior, currently receiving treatment for bipolar disorder, seizure disorder with negative EEG assessment, articulation disorder. Brain imaging: NA. Dysmorphic features: none. Growth parameters: weight 56.3 kg, height 164.5 cm.
 Mild-moderate intellectual disability
 7918076
 7977796
  59721
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case53
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 11178513
 11246845
  68333
 GRCh38
 Deletion
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  krumm_15_ASD_discovery_controls-control12972.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  10052226
  10210597
  158372
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14080.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  10047649
  10129386
  81738
  GRCh38
  Duplication
  Yes
  poultney_13_ASD_discovery_controls-control05C38675A
  N/A
  M
  Control
  NIMH Control (NIMH ID 78550)
 
  10419756
  10663044
  243289
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11028.s1
  12.9
  M
  Control (matched sibling)
  NA
  NA
  11879024
  11888167
  9144
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11092.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  11879024
  11888167
  9144
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11142.s1
  4.5
  F
  Control (matched sibling)
  NA
  NA
  10745972
  10750079
  4108
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11234.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  7090857
  7092347
  1491
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11234.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  11879024
  11888167
  9144
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11350.s1
  6.1
  M
  Control (matched sibling)
  NA
  NA
  9811841
  9832313
  20473
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11353.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  11879024
  11881018
  1995
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11453.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  12431537
  12451569
  20033
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11537.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  11879024
  11888167
  9144
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11580.s1
  11.8
  M
  Control (matched sibling)
  NA
  NA
  12543871
  12553770
  9900
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11691.s1
  16.3
  M
  Control (matched sibling)
  NA
  NA
  11879024
  11881018
  1995
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11696.s1
  16.8
  M
  Control (matched sibling)
  NA
  NA
  11879024
  11881018
  1995
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11707.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  11879024
  11881018
  1995
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11723.s1
  4.5
  F
  Control (matched sibling)
  NA
  NA
  12543871
  12553770
  9900
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12184.s1
  10.4
  F
  Control (matched sibling)
  NA
  NA
  7090857
  7092347
  1491
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12233.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  11879024
  11881018
  1995
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12261.s1
  21.5
  M
  Control (matched sibling)
  NA
  NA
  7090857
  7092347
  1491
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12316.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  9278977
  9297284
  18308
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12494.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  11879024
  11881018
  1995
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12561.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  11879024
  11881018
  1995
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12578.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  12543871
  12553770
  9900
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12722.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  11879024
  11881018
  1995
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12972.s1
  7.2
  F
  Control (matched sibling)
  NA
  NA
  10050828
  10314496
  263669
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_discovery_cases-caseREACH000327
 Not available
 
 Unknown
 
 
 ID2-AS1
 
 brandler_18_ASD_discovery_cases-caseREACH000336
 PCR or SNP data validation
 
 Maternal
 
 
 ASAP2
 
 egger_14_ASD_discovery_cases-caseA62
 qPCR
 
 Paternal
 
 Unknown
 MIR4261,RN7SL66P,C2orf48,HPCAL1
 
 engchuan_15_ASD_discovery_cases-case14158_2580
 
 
 Unknown
 
 
 FLJ33534,C2orf50
 
 feliciano_19_ASD_discovery_cases-caseSP0001491
 
 
 Paternal
 
 
 ITGB1BP1,IAH1,ADAM17,ASAP2,CPSF3
 null
 gai_11_ASD_discovery_cases-AU1157303
 
 
 Inherited
 
 
 0 genes
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003891
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL66P,ODC1,SNORA80B,HPCAL1
 
 krumm_15_ASD_discovery_cases-case14080.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 KLF11,CYS1,RRM2
 
 levy_11_ASD_discovery_cases-11052.p1
 
 
 Paternal
 Simplex
 Segregated
 NTSR2,LPIN1
 
 pinto_10_ASD_discovery_cases-case13082_963
 qPCR
 
 De novo
 N/A
 NA
 NTSR2
 
 sanders_11_ASD_discovery_cases-11000.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 LINC00298,LINC00299
 
 sanders_11_ASD_discovery_cases-11041.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11052.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 NTSR2,LPIN1
 
 sanders_11_ASD_discovery_cases-11057.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MIR3681HG
 
 sanders_11_ASD_discovery_cases-11106.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MIR3681HG
 
 sanders_11_ASD_discovery_cases-11142.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ATP6V1C2
 
 sanders_11_ASD_discovery_cases-11234.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11256.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MIR3681HG
 
 sanders_11_ASD_discovery_cases-11266.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11330.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ROCK2
 
 sanders_11_ASD_discovery_cases-11409.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11453.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MIR3681HG
 
 sanders_11_ASD_discovery_cases-11508.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 MIR3681HG
 
 sanders_11_ASD_discovery_cases-11537.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MIR3681HG
 
 sanders_11_ASD_discovery_cases-11537.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MIR3681HG
 
 sanders_11_ASD_discovery_cases-11587.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ATP6V1C2
 
 sanders_11_ASD_discovery_cases-11723.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MIR3681HG
 
 sanders_11_ASD_discovery_cases-11780.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12077.p1
 
 
 Unknown
 Simplex (trio)
 NA
 LINC00298,LINC00299
 
 sanders_11_ASD_discovery_cases-12102.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12457.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MIR3681HG
 
 sanders_11_ASD_discovery_cases-12539.p1
 
 
 Maternal
 Simplex (trio)
 NA
 MIR3681HG
 
 sanders_11_ASD_discovery_cases-12892.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12964.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13153.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC00298,LINC00299
 
 sanders_11_ASD_discovery_cases-13301.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MIR3681HG
 
 talkowski_12_DD_discovery_cases-caseL1
 
 
 Unknown
 Unknown
 Unknown
 LINC00298
 
 yin_16_ASD_discovery_cases-case53
 
 
 Unknown
 Unknown
 Unknown
 RNU6-1081P,PQLC3,ROCK2
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_15_ASD_discovery_controls-control12972.s1
  Illumina 1MDuo
 
  Paternal
 
 
  MIR4261,KLF11,CYS1,RRM2,C2orf48
 
krumm_15_ASD_discovery_controls-control14080.s1
  Omni2.5-4v1
 
  Maternal
 
 
  KLF11,CYS1,RRM2
 
poultney_13_ASD_discovery_controls-control05C38675A
 
 
  Unknown
 
 
  ODC1,SNORA80B,HPCAL1,NOL10
 
sanders_11_ASD_discovery_controls-11028.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MIR3681HG
 
sanders_11_ASD_discovery_controls-11092.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MIR3681HG
 
sanders_11_ASD_discovery_controls-11142.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ATP6V1C2
 
sanders_11_ASD_discovery_controls-11234.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11234.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MIR3681HG
 
sanders_11_ASD_discovery_controls-11350.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11353.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MIR3681HG
 
sanders_11_ASD_discovery_controls-11453.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MIR3681HG
 
sanders_11_ASD_discovery_controls-11537.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MIR3681HG
 
sanders_11_ASD_discovery_controls-11580.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MIR3681HG
 
sanders_11_ASD_discovery_controls-11691.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MIR3681HG
 
sanders_11_ASD_discovery_controls-11696.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MIR3681HG
 
sanders_11_ASD_discovery_controls-11707.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MIR3681HG
 
sanders_11_ASD_discovery_controls-11723.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MIR3681HG
 
sanders_11_ASD_discovery_controls-12184.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12233.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MIR3681HG
 
sanders_11_ASD_discovery_controls-12261.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12316.s1
 
 
  Unknown
  Simplex (quad)
  NA
  ASAP2
 
sanders_11_ASD_discovery_controls-12494.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MIR3681HG
 
sanders_11_ASD_discovery_controls-12561.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MIR3681HG
 
sanders_11_ASD_discovery_controls-12578.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MIR3681HG
 
sanders_11_ASD_discovery_controls-12722.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MIR3681HG
 
sanders_11_ASD_discovery_controls-12972.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MIR4261,RN7SL66P,KLF11,CYS1,RRM2,C2orf48,HPCAL1
 

No Animal Model Data Available
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