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12q13.3CNV Type: Deletion-Duplication


Largest CNV size: 85584 bp

Statistics Box:
Number of Reports: 9


Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-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
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
NA
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_replication_cases
 Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
 1979
 Cases diagnosed with ASD
 N/A
 N/A
 5018
 1
 0
 1
 celestino-soper_11_ASD_discovery_cases
 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
 99
 ASD
 
 87.88% Male
 2720
 0
 1
 1
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 38000
 0
 1
 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
 45768
 4
 0
 4
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 5434
 1
 1
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 254694
 3
 4
 7
 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
 
 
 45769
 1
 0
 1
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 240240
 3
 9
 12
 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
 85584
 5
 1
 6

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
 45768
 9
 1
 10
 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
 5434
 1
 2
 3
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 220723
 3
 1
 4
 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)
 337000
 3
 4
 7
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 48577
 4
 0
 4

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brandler_18_ASD_replication_cases
  N/A
 WGS
  Illumina HiSeq X10
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 None
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 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
 
 

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  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)
  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
 
 

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_replication_cases-case2-1646-003
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 56631626
 56636643
  5018
 GRCh38
 Deletion
 No
  celestino-soper_11_ASD_discovery_cases-11303
 NA
 M
 ASD
 NA
 NA
 56663490
 56666210
  2721
 GRCh38
 Duplication
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300370
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 CNV locus reported as 12q13.2 in original report
 
 56942486
 56980682
  38197
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13108_1253
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 56944932
 56983725
  38794
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14212_3390
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 56937957
 56983725
  45769
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3478_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 56944932
 56983725
  38794
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5248_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 56937957
 56983725
  45769
 GRCh38
 Deletion
 No
  krumm_13_ASD_discovery_cases-case12723.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12723. SRS score of 82.
 Full-scale IQ (FSIQ) score of 48.
 56952028
 56957462
  5435
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case13835.p1
 N/A
 F
 ASD
 ASD proband from SSC quad family 13835. SRS score of 90.
 Full-scale IQ (FSIQ) score of 119.
 56952028
 56955164
  3137
 GRCh38
 Deletion
 No (not tested)
  krumm_15_ASD_discovery_cases-case11247.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 56952028
 56957462
  5435
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11578.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 56952028
 56957462
  5435
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11938.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 56952028
 56957462
  5435
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12149.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 56952028
 56957462
  5435
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13006.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 56267395
 56522089
  254695
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13146.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 56952028
 56957464
  5437
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13700.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 56346145
 56362745
  16601
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5248_3
 NA
 M
 ASD
 NA
 NA
 56937957
 56983725
  45769
 GRCh38
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case03HI2580A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU0924301; NDAR ID NDAR_INVCE056PE7)
 
 57530689
 57567215
  36527
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case05HI3719A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1325301; NDAR ID NDAR_INVJC684GK1)
 
 56952027
 56957464
  5438
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case05HI3865A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1446301; NDAR ID NDAR_INVMG325CK2)
 
 56952027
 56957464
  5438
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case05HI4554A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1497302; NDAR ID NDAR_INVZC074TCK)
 
 56952027
 56957464
  5438
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case99HI0694B
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU038203; NDAR ID NDAR_INVXX733FLA)
 
 56354464
 56586928
  232465
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0694B
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU038203; NDAR ID NDAR_INVXX733FLA)
 
 56957148
 57197386
  240239
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0694B
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU038203; NDAR ID NDAR_INVXX733FLA)
 
 57232451
 57472690
  240240
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0694B
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU038203; NDAR ID NDAR_INVXX733FLA)
 
 56225371
 56254952
  29582
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0694B
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU038203; NDAR ID NDAR_INVXX733FLA)
 
 57563618
 57599213
  35596
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0694B
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU038203; NDAR ID NDAR_INVXX733FLA)
 
 57476588
 57524418
  47831
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0694B
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU038203; NDAR ID NDAR_INVXX733FLA)
 
 57615235
 57694325
  79091
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI1144B
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU020404; NDAR ID NDAR_INVPN168CVH)
 
 57489017
 57515993
  26977
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11027.p1
 9.3
 M
 ASD
 NA
 Full-scale IQ, 83; non-verbal IQ, 84; verbal IQ, 86
 56944932
 56983725
  38794
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11378.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 91; verbal IQ, 48
 56987475
 57073060
  85586
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11578.p1
 5.1
 M
 ASD
 NA
 Full-scale IQ, 120; non-verbal IQ, 120; verbal IQ, 115
 56944932
 56983725
  38794
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11938.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 95; verbal IQ, 82
 56944932
 56983725
  38794
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12723.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 38
 56944932
 56983725
  38794
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13146.p1
 10.4
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 107; verbal IQ, 104
 56944932
 56983725
  38794
 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
  engchuan_15_ASD_discovery_controls-control110036010999_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  56944932
  56983725
  38794
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB252464_1007874872
  N/A
  N/A
  Control
  No previous psychiatric history
 
  56944932
  56983725
  38794
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB428062_1007840509
  N/A
  N/A
  Control
  No previous psychiatric history
 
  56944932
  56983725
  38794
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB618506_1007853744
  N/A
  N/A
  Control
  No previous psychiatric history
 
  56944932
  56983725
  38794
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB969719_1007842424
  N/A
  N/A
  Control
  No previous psychiatric history
 
  56937957
  56983725
  45769
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900073_900073
  N/A
  N/A
  Control
  No previous psychiatric history
 
  56944932
  56976126
  31195
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900464_900464
  N/A
  N/A
  Control
  No previous psychiatric history
 
  56944932
  56983725
  38794
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902431_902431
  N/A
  N/A
  Control
  No previous psychiatric history
 
  56944932
  56983725
  38794
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902501_902501
  N/A
  N/A
  Control
  No previous psychiatric history
 
  56911796
  56956410
  44615
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902599_902599
  N/A
  N/A
  Control
  No previous psychiatric history
 
  56944932
  56983725
  38794
  GRCh38
  Deletion
  No
  krumm_13_ASD_discovery_controls-control11180.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11180. SRS score of 43.
 
  56226178
  56226419
  242
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control12723.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 12723. SRS score of 57.
 
  56952028
  56957462
  5435
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control13835.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 13835. SRS score of 52.
 
  56952028
  56957462
  5435
  GRCh38
  Deletion
  No (not tested)
  krumm_15_ASD_discovery_controls-control11027.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  56952028
  56957464
  5437
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11296.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  56952028
  56957462
  5435
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13006.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  56267395
  56488118
  220724
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13835.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  56952028
  56955164
  3137
  GRCh38
  Deletion
  Yes
  poultney_13_ASD_discovery_controls-control04C32515B
  N/A
  M
  Control
  NIMH Control (NIMH ID 79540)
 
  56952027
  56957464
  5438
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control05C42672
  N/A
  M
  Control
  NIMH Control (NIMH ID 95177)
 
  56952027
  56957464
  5438
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control05C44621
  N/A
  M
  Control
  NIMH Control (NIMH ID 39000)
 
  57280356
  57512966
  232611
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C44621
  N/A
  M
  Control
  NIMH Control (NIMH ID 39000)
 
  56781972
  57102923
  320952
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C44621
  N/A
  M
  Control
  NIMH Control (NIMH ID 39000)
 
  56252015
  56589014
  337000
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C44621
  N/A
  M
  Control
  NIMH Control (NIMH ID 39000)
 
  57154206
  57202539
  48334
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C44954
  N/A
  F
  Control
  NIMH Control (NIMH ID 12344)
 
  56952027
  56957464
  5438
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11027.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  56944932
  56983725
  38794
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11296.s1
  14
  M
  Control (matched sibling)
  NA
  NA
  56944932
  56993509
  48578
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11578.s1
  10.8
  M
  Control (matched sibling)
  NA
  NA
  56944932
  56987475
  42544
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11933.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  57469605
  57478937
  9333
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_replication_cases-case2-1646-003
 No validation step reported
 
 Paternal
 
 
 BAZ2A
 
 celestino-soper_11_ASD_discovery_cases-11303
 
 
 Unknown
 Simplex
 NA
 PTGES3
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300370
 
 
 Maternal
 
 
 RDH16
 
 engchuan_15_ASD_discovery_cases-case13108_1253
 
 
 Unknown
 
 
 RDH16
 
 engchuan_15_ASD_discovery_cases-case14212_3390
 
 
 Unknown
 
 
 RDH16
 
 engchuan_15_ASD_discovery_cases-case3478_3
 
 
 Unknown
 
 
 RDH16
 
 engchuan_15_ASD_discovery_cases-case5248_3
 
 
 Unknown
 
 
 RDH16
 
 krumm_13_ASD_discovery_cases-case12723.p1
 
 
 Paternal
 Simplex
 Not segregated
 RDH16
 
 krumm_13_ASD_discovery_cases-case13835.p1
 
 
 Maternal
 Simplex
 Not segregated
 RDH16
 
 krumm_15_ASD_discovery_cases-case11247.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 RDH16
 
 krumm_15_ASD_discovery_cases-case11578.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 RDH16
 
 krumm_15_ASD_discovery_cases-case11938.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 RDH16
 
 krumm_15_ASD_discovery_cases-case12149.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 RDH16
 
 krumm_15_ASD_discovery_cases-case13006.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 COQ10A,IL23A,RNU7-40P,APONP,HSPD1P4,CS,CNPY2,PAN2,STAT2,TIMELESS,MIP,SPRYD4,GLS2,RBMS2,APOF
 
 krumm_15_ASD_discovery_cases-case13146.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 RDH16
 
 krumm_15_ASD_discovery_cases-case13700.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 RNU7-40P,STAT2,APOF
 
 pinto_10_ASD_discovery_cases-case5248_3
 Agilent1M
 
 maternal
 NA
 NA
 RDH16
 
 poultney_13_ASD_discovery_cases-case03HI2580A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 KIF5A,DCTN2
 
 poultney_13_ASD_discovery_cases-case05HI3719A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RDH16
 
 poultney_13_ASD_discovery_cases-case05HI3865A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RDH16
 
 poultney_13_ASD_discovery_cases-case05HI4554A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RDH16
 
 poultney_13_ASD_discovery_cases-case99HI0694B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 APONP,HSPD1P4,STAT2,TIMELESS,MIP,SPRYD4,GLS2,RBMS2,APOF
 
 poultney_13_ASD_discovery_cases-case99HI0694B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RDH16,GPR182,NAB2,MIR1228,ZBTB39,MYO1A,NEMP1,STAT6,TAC3,LRP1,LRP1-AS
 
 poultney_13_ASD_discovery_cases-case99HI0694B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 SHMT2,NDUFA4L2,RNU6-879P,GLI1,STAC3,INHBC,INHBE,ARHGAP9,R3HDM2
 
 poultney_13_ASD_discovery_cases-case99HI0694B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 NABP2,SLC39A5,ANKRD52
 
 poultney_13_ASD_discovery_cases-case99HI0694B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 PIP4K2C,KIF5A
 
 poultney_13_ASD_discovery_cases-case99HI0694B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 MIR6758,DDIT3,MIR616,ARHGAP9,MARS,MBD6
 
 poultney_13_ASD_discovery_cases-case99HI0694B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ARHGEF25,B4GALNT1,RPL13AP23,SLC26A10,OS9
 
 poultney_13_ASD_discovery_cases-case99HI1144B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 MIR6758,MARS
 
 sanders_11_ASD_discovery_cases-11027.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RDH16
 
 sanders_11_ASD_discovery_cases-11378.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 GPR182,ZBTB39,MYO1A,NEMP1,TAC3
 
 sanders_11_ASD_discovery_cases-11578.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RDH16
 
 sanders_11_ASD_discovery_cases-11938.p1
 
 
 Paternal
 Simplex (trio)
 NA
 RDH16
 
 sanders_11_ASD_discovery_cases-12723.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 RDH16
 
 sanders_11_ASD_discovery_cases-13146.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 RDH16
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036010999_
 
 
  Unknown
 
 
  RDH16
 
engchuan_15_ASD_discovery_controls-controlB252464_1007874872
 
 
  Unknown
 
 
  RDH16
 
engchuan_15_ASD_discovery_controls-controlB428062_1007840509
 
 
  Unknown
 
 
  RDH16
 
engchuan_15_ASD_discovery_controls-controlB618506_1007853744
 
 
  Unknown
 
 
  RDH16
 
engchuan_15_ASD_discovery_controls-controlB969719_1007842424
 
 
  Unknown
 
 
  RDH16
 
engchuan_15_ASD_discovery_controls-controlHABC_900073_900073
 
 
  Unknown
 
 
  RDH16
 
engchuan_15_ASD_discovery_controls-controlHABC_900464_900464
 
 
  Unknown
 
 
  RDH16
 
engchuan_15_ASD_discovery_controls-controlHABC_902431_902431
 
 
  Unknown
 
 
  RDH16
 
engchuan_15_ASD_discovery_controls-controlHABC_902501_902501
 
 
  Unknown
 
 
  RDH16,SDR9C7
 
engchuan_15_ASD_discovery_controls-controlHABC_902599_902599
 
 
  Unknown
 
 
  RDH16
 
krumm_13_ASD_discovery_controls-control11180.s1
 
 
  Paternal
  Simplex
 
  NABP2
 
krumm_13_ASD_discovery_controls-control12723.s1
 
 
  Paternal
  Simplex
 
  RDH16
 
krumm_13_ASD_discovery_controls-control13835.s1
 
 
  Maternal
  Simplex
 
  RDH16
 
krumm_15_ASD_discovery_controls-control11027.s1
  Illumina 1M
 
  Paternal
 
 
  RDH16
 
krumm_15_ASD_discovery_controls-control11296.s1
  Illumina 1M
 
  Paternal
 
 
  RDH16
 
krumm_15_ASD_discovery_controls-control13006.s1
  Illumina 1MDuo
 
  Paternal
 
 
  COQ10A,IL23A,RNU7-40P,APONP,CS,CNPY2,PAN2,STAT2,TIMELESS,MIP,SPRYD4,GLS2,APOF
 
krumm_15_ASD_discovery_controls-control13835.s1
  Omni2.5-4v1
 
  Maternal
 
 
  RDH16
 
poultney_13_ASD_discovery_controls-control04C32515B
 
 
  Unknown
 
 
  RDH16
 
poultney_13_ASD_discovery_controls-control05C42672
 
 
  Unknown
 
 
  RDH16
 
poultney_13_ASD_discovery_controls-control05C44621
 
 
  Unknown
 
 
  RNU6-879P,GLI1,MIR6758,INHBC,INHBE,ARHGAP9,MARS,R3HDM2
 
poultney_13_ASD_discovery_controls-control05C44621
 
 
  Unknown
 
 
  RDH16,GPR182,NAB2,SDR9C7,ZBTB39,MYO1A,NEMP1,STAT6,HSD17B6,TAC3
 
poultney_13_ASD_discovery_controls-control05C44621
 
 
  Unknown
 
 
  COQ10A,IL23A,RNU7-40P,APONP,HSPD1P4,RNU6-343P,ANKRD52,CS,CNPY2,PAN2,STAT2,TIMELESS,MIP,SPRYD4,GLS2,RBMS2,APOF
 
poultney_13_ASD_discovery_controls-control05C44621
 
 
  Unknown
 
 
  MIR1228,LRP1
 
poultney_13_ASD_discovery_controls-control05C44954
 
 
  Unknown
 
 
  RDH16
 
sanders_11_ASD_discovery_controls-11027.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RDH16
 
sanders_11_ASD_discovery_controls-11296.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RDH16
 
sanders_11_ASD_discovery_controls-11578.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RDH16
 
sanders_11_ASD_discovery_controls-11933.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GLI1,ARHGAP9,MARS
 

No Animal Model Data Available
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