10q23.31CNV Type: Deletion
Largest CNV size: 24499 bp
Statistics Box:
Number of Reports: 8
Number of Reports: 8
Summary Information
Summary statement in development
Additional Locus Information
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...
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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013
584
Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype
N/A
N/A
1014524
1
0
1
allach_el_khattabi_18_ASD/DD/ID_discovery_cases
Cases with 16p13.11 duplications whom had been referred to 11 French and 1 Belgian genetic centers for various developmental disorders
45
The most frequently observed clinical features in cases were speech delay (88%), learning disabilities/intellectual disability (86%), ASD (67%), and motor delay (49%).
Range, 6 months-25 years
48.89% Male
451107
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
63431
2
0
2
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
539723
0
1
1
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
3590
0
2
2
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)
15104
0
1
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
29048
1
1
2
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
24499
9
0
9
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
542719
6
3
9
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_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
3590
0
2
2
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
0
0
0
0
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
29048
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.
35123
13
0
13
stamouli_18_ASD/NDD_discovery_controls
Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
N/A
N/A
34434
0
1
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Saudi Arabia
Array SNP
Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
HMM
Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
None
allach_el_khattabi_18_ASD/DD/ID_discovery_cases
France, Belgium
aCGH, solid phase hybridization
Agilent 44K, Agilent 60K, Agilent 105K, Agilent 180K, Illumina HumanHap300, Illumina HumanCytoSNP-12
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
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
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
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
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
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
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case13DG0291
N/A
M
ASD and ADHD
Autism, speech delay, ADHD, macrocephaly, penile hyperpigmentation (multiple macules), right abdominal mass (Bannayan-Riley-Ruvalcaba syndrome). Non-consanguineous parents. Mother and two sisters also carry 10q23.31 deletion, but only the case presents with neurocognitive phenotype of autism and severe ID.
87926751
88941275
1014525
GRCh38
Deletion
No
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case31
4 yrs.
M
ASD, developmental delay, learning disabilities, and epilepsy/seizures
Birth/neonatal history: uneventful prenatal period; birth weight 50th %ile, length 50th %ile, OFC 35th %ile. Developmental milestones: developmental delay, motor delay, speech delay. Behavioral/psychiatric evaluation: ASD. Epilepsy/seizures: seizures. Brain imaging: delayed myelination. Family history: phenotypically normal mother.
Learning disabilities
89824594
90275700
451107
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14189_3130
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
89156328
89204638
48311
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14390_4990
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
90499383
90562814
63432
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000558
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
88439108
88978831
539724
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case12510.p1
N/A
M
ASD
ASD proband from SSC quad family 12510. SRS score of 90.
Full-scale IQ (FSIQ) score of 52.
88943796
88947386
3591
GRCh38
Duplication
No
krumm_13_ASD_discovery_cases-case12518.p1
N/A
M
ASD
ASD proband from SSC quad family 12518. SRS score of 62.
Full-scale IQ (FSIQ) score of 88.
88943796
88947386
3591
GRCh38
Duplication
No (not tested)
poultney_13_ASD_discovery_cases-case05HI3937A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1493301; NDAR ID NDAR_INVCJ982EF0)
89584404
89599507
15104
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case53664
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
90082685
90111732
29048
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case60666L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
90652656
90663281
10626
Unknown
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
89180246
89204638
24393
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11680.p1
8
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
89180246
89204745
24500
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11693.p1
5.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 76; verbal IQ, 88
89180246
89204745
24500
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11831.p1
10.5
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 110
90723002
90725234
2233
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12420.p1
7.8
M
Autism
NA
Full-scale IQ, 131; non-verbal IQ, 132; verbal IQ, 123
90723002
90725234
2233
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12456.p1
14.3
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
89180930
89204638
23709
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12463.p1
9.8
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 94; verbal IQ, 73
89066495
89067404
910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12581.p1
12.4
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
89180930
89204745
23816
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12607.p1
5.3
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 104; verbal IQ, 104
90723002
90725234
2233
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-control110036017028_
N/A
N/A
Control
No previous psychiatric history
89156328
89206070
49743
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB178717_1007875826
N/A
N/A
Control
No previous psychiatric history
90323258
90839066
515809
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB313016_1007842089
N/A
N/A
Control
No previous psychiatric history
89171845
89204638
32794
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB889239_1007844977
N/A
N/A
Control
No previous psychiatric history
89165910
89204638
38729
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900830_900830
N/A
N/A
Control
No previous psychiatric history
89810454
90276397
465944
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900871_900871
N/A
N/A
Control
No previous psychiatric history
89659034
89815975
156942
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901056_901056
N/A
N/A
Control
No previous psychiatric history
89425939
89639975
214037
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902527_902527
N/A
N/A
Control
No previous psychiatric history
90322493
90865212
542720
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902884_902884
N/A
N/A
Control
No previous psychiatric history
89810454
90276397
465944
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control12510.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12510. SRS score of 45.
88943796
88947386
3591
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control12518.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12518. SRS score of 54.
88943796
88947386
3591
GRCh38
Duplication
No (not tested)
sanders_11_ASD_discovery_controls-11017.s1
5.7
F
Control (matched sibling)
NA
NA
89180930
89186051
5122
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11089.s1
9.3
M
Control (matched sibling)
NA
NA
89180246
89204638
24393
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11254.s1
12.8
F
Control (matched sibling)
NA
NA
89180930
89186051
5122
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11425.s1
5.5
F
Control (matched sibling)
NA
NA
89180601
89204638
24038
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11526.s1
7.9
F
Control (matched sibling)
NA
NA
87865825
87885716
19892
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11700.s1
11
F
Control (matched sibling)
NA
NA
89180246
89204745
24500
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11812.s1
6.3
F
Control (matched sibling)
NA
NA
90723002
90725234
2233
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11831.s1
7.5
F
Control (matched sibling)
NA
NA
90723002
90725234
2233
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11860.s1
14.1
M
Control (matched sibling)
NA
NA
88054639
88089762
35124
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11942.s1
14.6
M
Control (matched sibling)
NA
NA
89180930
89190926
9997
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11964.s1
6.7
F
Control (matched sibling)
NA
NA
90636363
90642214
5852
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12380.s1
17
F
Control (matched sibling)
NA
NA
89180930
89186051
5122
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12798.s1
8.1
F
Control (matched sibling)
NA
NA
90723002
90725234
2233
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family34_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
89709388
89743821
34434
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case13DG0291
Maternal
Simplex
Not segregated
RPL11P3,MED6P1,RPL7P34,NAPGP1,KRT8P38,RCBTB2P1,PTCD2P2,ACTA2-AS1,LIPF,LIPN,LIPM,ANKRD22,STAMBPL1,ACTA2,PTEN,RNLS,LIPJ,LIPK
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case31
Maternal
Not segregated
MARK2P16,SNRPD2P1,RN7SKP143,LINC00865,LINC01374,LINC01375
engchuan_15_ASD_discovery_cases-case14189_3130
Unknown
engchuan_15_ASD_discovery_cases-case14390_4990
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000558
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RPL7P34,NAPGP1,KRT8P38,RCBTB2P1,PTCD2P2,ACTA2-AS1,LIPF,LIPN,LIPM,ANKRD22,STAMBPL1,ACTA2,RNLS,LIPJ,LIPK
krumm_13_ASD_discovery_cases-case12510.p1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Paternal
Simplex
Not segregated
STAMBPL1,ACTA2
krumm_13_ASD_discovery_cases-case12518.p1
Paternal
Simplex
Not segregated
STAMBPL1,ACTA2
poultney_13_ASD_discovery_cases-case05HI3937A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MIR107,PANK1
prasad_12_ASD_discovery_cases-case53664
Unknown
Unknown
Unknown
RNLS
prasad_12_ASD_discovery_cases-case60666L
Unknown
Simplex
Unknown
STAMBPL1
sanders_11_ASD_discovery_cases-11256.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11680.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11693.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11831.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12420.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12456.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12463.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12581.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12607.p1
Unknown
Simplex (trio)
NA
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036017028_
Unknown
CH25H
engchuan_15_ASD_discovery_controls-controlB178717_1007875826
Unknown
HTR7
engchuan_15_ASD_discovery_controls-controlB313016_1007842089
Unknown
engchuan_15_ASD_discovery_controls-controlB889239_1007844977
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900830_900830
Unknown
MARK2P16,SNRPD2P1,RN7SKP143,LINC00865,LINC01374,LINC01375
engchuan_15_ASD_discovery_controls-controlHABC_900871_900871
Unknown
MTND5P42,KIF20B
engchuan_15_ASD_discovery_controls-controlHABC_901056_901056
Unknown
MIR107,SLC16A12-AS1,PANK1,SLC16A12
engchuan_15_ASD_discovery_controls-controlHABC_902527_902527
Unknown
HTR7
engchuan_15_ASD_discovery_controls-controlHABC_902884_902884
Unknown
MARK2P16,SNRPD2P1,RN7SKP143,LINC00865,LINC01374,LINC01375
krumm_13_ASD_discovery_controls-control12510.s1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Paternal
Simplex
STAMBPL1,ACTA2
krumm_13_ASD_discovery_controls-control12518.s1
Paternal
Simplex
STAMBPL1,ACTA2
sanders_11_ASD_discovery_controls-11017.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11089.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11254.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11425.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11526.s1
Unknown
Simplex (quad)
NA
PTEN
sanders_11_ASD_discovery_controls-11700.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11812.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11831.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11860.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11942.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11964.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12380.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12798.s1
Maternal
Simplex (quad)
NA
stamouli_18_ASD/NDD_discovery_controls-family34_Twin_1
Unknown
N/A (both twins typically developing)
KIF20B
No Animal Model Data Available