6p21.33CNV Type: Deletion-Duplication
Largest CNV size: 108100 bp
Statistics Box:
Number of Reports: 15
Number of Reports: 15
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
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
2474
1
0
1
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
91381
2
0
2
davis_12_ASD_discovery_cases
Proband from simplex family recruited and assessed by Autism Center of Excellence (ACE) at the University of Illinois-Chicago
1
Diagnosis of autistic disorder at 43 months of age. Diagnostic evaluation performed using ADI-R and ADOS-WPS module 3. Additional measures: Repetitve Behavior Scale-Revised (RBS-R) and Aberrant Behavior Checklist-Community Version (ABC-CV) for repetitive behaviors; Social Communication Questionnaire (SCQ) & Social Responsiveness Scale (SRS) for social interactions; Clinical Evaluation of Language Fundamentals (CELF) for language ability; Wechsler Abbreviated Scale of Intelligence (WASI) for verbal and nonverbal abilities; Vineland Adaptive Behavior Scales (VABS-II) for adaptive functioning.
12 yrs.
Male
25630
1
0
1
digregorio_17_DD/ID_discovery_cases
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
19000
0
1
1
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
5883
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
44378
0
2
2
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
108100
1
0
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
37123
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)
35305
0
5
5
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
22687
1
0
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
96777
1
5
6
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
15542
23
15
38
sato_12_ASD_discovery_cases_2
Three additional affected males from four-generation family with ASD/BAP
3
Two cases diagnosed with Asperger syndrome, 1 case with broader autism phenotype
Range, 5 yrs. 8 mos.-95 yrs.
100% Male
9860
1
0
1
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
59460
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
17056
3
0
3
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
572221
1
0
1
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
93230
3
2
5
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
44378
0
1
1
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
12376
1
0
1
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)
49149
0
1
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)
22687
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.
15129
12
9
21
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
17056
0
0
0
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
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
None
davis_12_ASD_discovery_cases
NA
Solid phase hybridization
Illumina Human 1M-Duo DNA Analysis Bead Chip
PennCNV, QuantiSNP, Gnosis
CNVision
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
qPCR
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
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
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by 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
sato_12_ASD_discovery_cases_2
Canadian
aCGH
Agilent SurePrint G3 Human CGH 1x1M
DNA Analytics, CBS/DNAcopy
None
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
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
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
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
brandler_18_ASD_replication_cases-case2-1466-003
N/A
M
ASD
Case from MSSNG cohort
31542875
31545348
2474
GRCh38
Deletion
No
davis_09_ASD_discovery_cases-AU072004
NA
NA
Syndromic ASD
Diagnosis: autism. Syndromic autism features: fused ribs
31468074
31559455
91381
Unknown
Deletion
No
davis_09_ASD_discovery_cases-AU072005
NA
NA
Syndromic ASD
Diagnosis: autism. Syndromic autism features: fused ribs
31468074
31559455
91381
Unknown
Deletion
No
davis_12_ASD_discovery_cases-case1
12 yrs.
M
Autism
Diagnosis of autistic disorder at 43 months of age. ADI-R evaluation: impairments in reciprocal social interaction, 23; qualitative abnormalities in communication, 20; restricted and repetitive patterns of behavior, 6; abnormalitiy of development evident at or before 36 months, 3. ADOS evaluation: communication, 4; social, 7; social affect, 7; restricted repetitive behaviors, 3; calibrated severity score, 6. Birth/neonatal history: 38-week gestation (birth weight 3.6 kg); feeding difficulties, generalized hypotonia, and weakness of left leg and arm noted during infancy. Developmental milestones: loss of previously normal language development at 19 months, with language loss persisting for 11 months; gross motor milestones wihtin normal limits (dragged left leg while learning to crawl). Language and communication evaluation: Clinical evaluation of language fundamentals (CELF-4), 109 (73rd %ile); Social communication questionnaire, 26; primarily verbal communication (fluent and conversational language that could be repetitive, usage of overly formal words in conservation, atypical tone and prosody); limited use of gestures and impairments in nonverbal communication. Motor and musculoskeletal evaluation: pattern of asymmetic physical development consistent with mild left hemiparesis; stretch reflexes 2+ and asymmetrical throughout; left side of face less mobile than right. Behavioral/psychiatric evaluation: Repetitive behavior scale-revised, 6; Aberrant behavior checklist-community, 27; Childhood routines inventory (version 1.2), 44; notable behavior patterns include avoidance of eye contact, staring at hands, preference for certain foods and routines, sensitivity to particular pieces of clothing, irritation by other people, conservations about limited range of topics, preference for solitary activities, talking to himself loudly, engagement in reciprocal social smiling, exhibition of limited insight into others' experiences and narrow understanding of the nature of interpersonal relationships; exhibition of multiple sensory-seeking behaviors and sensitivity to certain stimuli and loud noises. Epilepsy/seizures: no report of clinical seizure. EEG: normal at 22 months; repeat EEG at 5 years showed left temporal and frontal epileptiform waves. Brain imaging: brain MRI normal at 22 months. Growth parameters: head circumference of 56.5 cm (98th %ile; in macrocephalic range). Family history: sister with social awkwardness; father with social isolation/anxiety and elevated broader autism phenotype questionnaire aloofness score (3.75); mother reported six miscarriages and one ectopic pregnancy prior to conception of proband.
Vineland adaptive behavior scale, 98 (45th %ile).
31312324
31337954
25631
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300771
N/A
F
Developmental delay
Global developmental delay, generalized hypotonia, linear hyperpigmentation
31817801
31836864
19064
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case3046
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
31872551
31878433
5883
Unknown
Deletion
No
krumm_15_ASD_discovery_cases-case11808.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
30689275
30703537
14263
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13851.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
31700941
31745319
44379
GRCh38
Duplication
Yes
morrow_08_ASD_discovery_cases-case3301
NA
ASD
NA
NA
31460000
31568000
108100
Unknown
Deletion
No
pinto_10_ASD_discovery_cases-case1960_301
NA
F
Autism
Verbal, floppy infant, gastrointestinal problems
MR
31388080
31425202
37123
Unknown
Deletion
Yes
poultney_13_ASD_discovery_cases-case05HI4003A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1520302; NDAR ID NDAR_INVCE193UP7)
31994496
32029800
35305
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0361A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU002704; NDAR ID NDAR_INVXF645EXZ)
32039092
32043894
4803
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0671A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU033403; NDAR ID NDAR_INVFP134WLL)
31958370
31960742
2373
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0807A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
30740677
30744198
3522
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0807A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
31955217
31962056
6840
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case60539L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
31124535
31147221
22687
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1028-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: yes. Seizures: no.
Developmental delay: yes. Intellectual disability: yes.
31389065
31485841
96777
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1152-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: unknown. Seizures: yes.
Developmental delay: yes. Intellectual disability: unknown.
31391416
31485841
94426
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1192-0
N/A
M
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no. Neurological features: hypotonia, unsteady gait, fine motor delay, gross motor delay, visual motor delay, deficits in expressive and receptive language skills, difficulty verbalizing, deficits in motor oral skills, dysarthria. Behavioral problems: low tolerance level, poor self-control. Dysmorphic features: prominent forehead, prominent ears, high arched palate. Ocular and auditory problems: chronic otitis media. Brain imaging: complete ACC.
Developmental delay: yes. Intellectual disability: yes.
31441247
31485336
44090
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1202-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: unknown. Intellectual disability: no.
31392612
31485841
93230
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1639-0
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
31389065
31446233
57169
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-049
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
31392612
31446233
53622
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11000.p1
9.2
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 78; verbal IQ, 50
31252026
31261627
9602
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11160.p1
6.9
F
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 119; verbal IQ, 99
31097843
31102887
5045
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11225.p1
11.4
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 98; verbal IQ 120
30495391
30495431
41
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11251.p1
7.3
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 84; verbal IQ, 88
31252026
31260683
8658
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11277.p1
10.2
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 31
31252092
31261627
9536
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11290.p1
11.3
M
ASD
NA
Full-scale IQ, 119; non-verbal IQ, 119; verbal IQ, 115
31252092
31261627
9536
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11297.p1
12.8
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 98; verbal IQ 73
31269809
31272078
2270
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11323.p1
8.6
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 114; verbal IQ, 98
31252026
31261627
9602
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11324.p1
11.4
F
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 34; verbal IQ, 21
31252026
31261627
9602
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11343.p1
8.3
M
ASD
NA
Full-scale IQ, 87; non-verbal IQ, 90; verbal IQ 87
31269077
31272078
3002
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11400.p1
8.3
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 114; verbal IQ, 103
31269491
31272078
2588
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11485.p1
5.6
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 75; verbal IQ, 63
30495391
30495431
41
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11567.p1
9.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
30774773
30778915
4143
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11597.p1
12.3
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 118; verbal IQ, 128
30808706
30814630
5925
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
31269809
31272078
2270
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11931.p1
6.6
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 69; verbal IQ, 51
31252092
31261627
9536
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11989.p1
9.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83
30427174
30436626
9453
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12030.p1
6.8
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 101
31269491
31272078
2588
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12091.p1
4.4
F
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 100; verbal IQ, 94
31252092
31261627
9536
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12119.p1
5.2
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 41
30427174
30437009
9836
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12158.p1
5.7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 100
30426851
30437009
10159
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12208.p1
7.4
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 118; verbal IQ, 89
31269347
31270250
904
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12261.p1
16.3
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 73
30667753
30676747
8995
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12297.p1
15
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 89
31252092
31262079
9988
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12315.p1
5.8
M
ASD
NA
Full-scale IQ, 53; non-verbal IQ, 54; verbal IQ, 61
31269077
31272078
3002
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12321.p1
11.2
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 108; verbal IQ, 76
31269491
31272078
2588
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12332.p1
12.3
M
ASD
NA
Full-scale IQ, 107; non-verbal IQ, 101; verbal IQ, 119
31253262
31261627
8366
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12395.p1
5.2
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 81
30427174
30436626
9453
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12598.p1
17.4
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 83; verbal IQ, 34
31269031
31272078
3048
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12607.p1
5.3
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 104; verbal IQ, 104
31253262
31261627
8366
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12651.p1
10.8
M
Autism
NA
Full-scale IQ, 24; non-verbal IQ, 34; verbal IQ, 14
31253262
31261627
8366
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12682.p1
9.7
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 93; verbal IQ, 92
31253262
31261627
8366
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12786.p1
7
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 90; verbal IQ, 87
31489401
31504943
15543
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12944.p1
7.9
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 60
30802840
30806697
3858
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13006.p1
10.5
M
Autism
NA
Full-scale IQ, 56; non-verbal IQ, 56; verbal IQ, 57
31599645
31605179
5535
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13039.p1
6.3
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 135; verbal IQ, 93
31253262
31261627
8366
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
31269077
31272078
3002
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13076.p1
6.7
M
ASD
NA
Full-scale IQ, 89; non-verbal IQ, 85; verbal IQ, 102
30670221
30676747
6527
GRCh38
Deletion
No
sato_12_ASD_discovery_cases_2-family1caseIV-3
5 yrs. 8 mos.
M
Asperger
Diagnosis of Asperger syndrome; positive for autism on ADI-R and ASD on the ADOS. Developmental milestones: not talking at 18 months, developed single words at 24 months. Language and communication evaluation: expressive language consisted of short sentences and phrases, some echoed speech, and mild articulation difficulties; Oral and Written Language Scales (OWLS) total language score of 80 (9th %ile), receptive language score of 78 (7th %ile), and expressive language score of 86 (18th %ile); Peabody Picture Vocabulary Test (PPVT) 4th edition receptive vocabulary score of 91 (27th %ile). Behavioral/psychiatric evaluation: exhibition of repetitive behaviors; failure to offer comfort or empathy; failure to initiate social interaction, although did play with parents; had made good progress in social interaction at 5 years 8 months of age. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: brother with ASD/Asperger disorder; mother with diagnosis of anxiety disorder and generalized anxiety disorder (no ASD or BAP); maternal uncle with Asperger disorder; great-grandfather with BAP.
Wechsler Preschool and Primary Scale of Intelligence (WPPSI): full-scale IQ of 89 (23rd %ile, low average range); verbal Iqof 89 (23rd %ile); performance IQ of 91 (27th %ile). Adaptive behavior scores (as determined by Vineland Adaptive Behavior Scales/VABS-II): adaptive behavior composite score of 86 (18th %ile); communication score of 91 (27th %ile); daily living skills score of 89 (23rd %ile); socialization score of 85 (16th %ile); motor score of 91 (27th %ile).
29945952
29955811
9860
GRCh38
Deletion
No
vaags_11_ASD_discovery_cases-probandF2-003
3 yrs. 5 mos.
M
Autism
Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
29886893
29946352
59460
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case243
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
31294684
31301745
7062
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case244
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
31489856
31506911
17056
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case245
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
31489856
31506911
17056
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
girirajan_13b_ASD_discovery_controls-3106105582
N/A
N/A
Control
Ethnicity: Hispanic
N/A
30687997
31260218
572222
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1355
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
31340328
31341340
1013
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split187
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
31360389
31453618
93230
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split402
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
31360389
31453618
93230
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split624
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
31360389
31453618
93230
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split672
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
31360389
31453618
93230
Unknown
Deletion
No
krumm_15_ASD_discovery_controls-control13851.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
31700941
31745319
44379
GRCh38
Duplication
Yes
nord_11_ASD_discovery_controls-04C28280
Control
30515458
30527833
12376
Unknown
Deletion
poultney_13_ASD_discovery_controls-control05C40144A
N/A
F
Control
NIMH Control (NIMH ID 33099)
31980652
32029800
49149
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11008.s1
26.3
M
Control (matched sibling)
NA
NA
30495391
30495431
41
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11032.s1
3.7
M
Control (matched sibling)
NA
NA
31252975
31261627
8653
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11254.s1
12.8
F
Control (matched sibling)
NA
NA
31252026
31254137
2112
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11324.s1
13
F
Control (matched sibling)
NA
NA
31253262
31261627
8366
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11330.s1
11.8
F
Control (matched sibling)
NA
NA
31297959
31297975
17
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11333.s1
6.9
M
Control (matched sibling)
NA
NA
30426851
30437009
10159
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11383.s1
5.5
M
Control (matched sibling)
NA
NA
30808706
30815854
7149
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11399.s1
13.3
M
Control (matched sibling)
NA
NA
31489965
31494189
4225
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11432.s1
8.1
F
Control (matched sibling)
NA
NA
31490380
31505509
15130
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11512.s1
4.3
F
Control (matched sibling)
NA
NA
31252975
31260633
7659
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11597.s1
9
M
Control (matched sibling)
NA
NA
30808706
30814630
5925
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11959.s1
9.7
F
Control (matched sibling)
NA
NA
30427174
30437009
9836
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11989.s1
8.1
F
Control (matched sibling)
NA
NA
30468024
30476580
8557
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12014.s1
4.3
M
Control (matched sibling)
NA
NA
31269031
31272078
3048
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12061.s1
8.4
M
Control (matched sibling)
NA
NA
31269347
31272078
2732
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12361.s1
7.3
M
Control (matched sibling)
NA
NA
31269347
31272078
2732
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12515.s1
4.2
M
Control (matched sibling)
NA
NA
31252975
31254137
1163
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12786.s1
4.9
M
Control (matched sibling)
NA
NA
31489401
31501714
12314
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12944.s1
4.8
M
Control (matched sibling)
NA
NA
30802840
30806697
3858
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13001.s1
7.4
M
Control (matched sibling)
NA
NA
31252092
31262079
9988
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13006.s1
7.5
F
Control (matched sibling)
NA
NA
31599645
31605179
5535
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-case2-1466-003
No validation step reported
Maternal
DDX39B-AS1,ATP6V1G2,ATP6V1G2-DDX39B
davis_09_ASD_discovery_cases-AU072004
Unknown
Unknown
Unknown
MICA, HCP5
davis_09_ASD_discovery_cases-AU072005
Unknown
Unknown
Unknown
MICA, HCP5
davis_12_ASD_discovery_cases-case1
Unknown
Simplex
Unknown
HLA-B
digregorio_17_DD/ID_discovery_cases-DECIPHER_300771
qPCR
Unknown
HSPA1B,C6orf48,SNORD48,HSPA1A
kanduri_15_ASD_discovery_cases-case3046
De novo
Unknown
Unknown
C2 (intronic)
krumm_15_ASD_discovery_cases-case11808.p1
Illumina 1MDuo
De novo
Simplex
Not segregated (CNV in unaffected sibling)
NRM,RPL7P4,MDC1,MDC1-AS1
krumm_15_ASD_discovery_cases-case13851.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
MIR4646,LY6G6F,LY6G6F-LY6G6D,LY6G6E,LY6G6D,DDAH2,ABHD16A,CLIC1,MSH5,MSH5-SAPCD1,MPIG6B,LY6G6C
morrow_08_ASD_discovery_cases-case3301
Paternal
NA
NA
5' end of MICB
pinto_10_ASD_discovery_cases-case1960_301
Illumina550
maternal
NA
NA
HLA-B
poultney_13_ASD_discovery_cases-case05HI4003A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
C4A-AS1,CYP21A1P,TNXA,STK19B,C4A,C4B
poultney_13_ASD_discovery_cases-case98HI0361A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CYP21A2,TNXB
poultney_13_ASD_discovery_cases-case99HI0671A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
NELFE,SKIV2L
poultney_13_ASD_discovery_cases-case99HI0807A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
IER3-AS1,IER3,FLOT1
poultney_13_ASD_discovery_cases-case99HI0807A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
NELFE,MIR1236,SKIV2L
prasad_12_ASD_discovery_cases-case60539L
Unknown
Unknown
Unknown
HCG22
sajan_13_ACC/CBLH/PMG_discovery_cases-case1028-0
Not tested by qPCR
Unknown
Unknown
Unknown
LINC01149,MICA,HCP5
sajan_13_ACC/CBLH/PMG_discovery_cases-case1152-0
Not tested by qPCR
Unknown
Unknown
Unknown
LINC01149,MICA,HCP5
sajan_13_ACC/CBLH/PMG_discovery_cases-case1192-0
Not tested by qPCR
Unknown
Unknown
Unknown
LINC01149,HCP5
sajan_13_ACC/CBLH/PMG_discovery_cases-case1202-0
Not tested by qPCR
Unknown
Unknown
Unknown
LINC01149,MICA,HCP5
sajan_13_ACC/CBLH/PMG_discovery_cases-case1639-0
Not tested by qPCR
Unknown
Unknown
Unknown
LINC01149,MICA,HCP5
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-049
Not tested by qPCR
Unknown
Unknown
Unknown
LINC01149,MICA,HCP5
sanders_11_ASD_discovery_cases-11000.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11160.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11225.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11251.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11277.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11290.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11297.p1
Maternal
Simplex (trio)
NA
HLA-C,HLA-B
sanders_11_ASD_discovery_cases-11323.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11324.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11343.p1
Maternal
Simplex (trio)
NA
HLA-C,HLA-B
sanders_11_ASD_discovery_cases-11400.p1
Unknown
Simplex (quad-proband matched)
Not segregated
HLA-C,HLA-B
sanders_11_ASD_discovery_cases-11485.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11567.p1
Paternal
Simplex (quad-proband matched)
Not segregated
HCG20
sanders_11_ASD_discovery_cases-11597.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC00243
sanders_11_ASD_discovery_cases-11780.p1
Maternal
Simplex (trio)
NA
HLA-C,HLA-B
sanders_11_ASD_discovery_cases-11931.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11989.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12030.p1
Paternal
Simplex (quad-proband matched)
Not segregated
HLA-C,HLA-B
sanders_11_ASD_discovery_cases-12091.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12119.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12158.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12208.p1
Both parents
Simplex (trio)
NA
HLA-C,HLA-B
sanders_11_ASD_discovery_cases-12261.p1
Unknown
Simplex (quad-proband matched)
Not segregated
PPP1R18,DHX16
sanders_11_ASD_discovery_cases-12297.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12315.p1
Paternal
Simplex (trio)
NA
HLA-C,HLA-B
sanders_11_ASD_discovery_cases-12321.p1
Paternal
Simplex (quad-proband matched)
Not segregated
HLA-C,HLA-B
sanders_11_ASD_discovery_cases-12332.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12395.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12598.p1
Paternal
Simplex (quad-proband matched)
Not segregated
HLA-C,HLA-B
sanders_11_ASD_discovery_cases-12607.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12651.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12682.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12786.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MICB
sanders_11_ASD_discovery_cases-12944.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC00243
sanders_11_ASD_discovery_cases-13006.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13039.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13063.p1
Maternal
Simplex (quad-proband matched)
Not segregated
HLA-C,HLA-B
sanders_11_ASD_discovery_cases-13076.p1
Unknown
Simplex (quad-proband matched)
Not segregated
PPP1R18,DHX16
sato_12_ASD_discovery_cases_2-family1caseIV-3
Possibly maternal
Unknown
Multiplex (brother with Asperger)
Unknown
vaags_11_ASD_discovery_cases-probandF2-003
Unknown
Multiplex
Unknown
HLA-H,HLA-T,DDX39BP1,MCCD1P1,HCG4B,HLA-K,HLA-U,HLA-A
yin_16_ASD_discovery_cases-case243
Unknown
Unknown
Unknown
LINC02571,HLA-B
yin_16_ASD_discovery_cases-case244
Unknown
Unknown
Unknown
MICB
yin_16_ASD_discovery_cases-case245
Unknown
Unknown
Unknown
MICB
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_13b_ASD_discovery_controls-3106105582
Unknown
NRM,RPL7P4,TUBB,IER3-AS1,IER3,RN7SL353P,LINC02570,RN7SKP186,MIR4640,GTF2H4,NAPGP2,MUC21,HCG22,RNU6-1133P,C6orf15,CDSN,PSORS1C2,POLR2LP1,PSORS1C3,HCG27,MDC1,MDC1-AS1,FLOT1,HCG20,DDR1-DT,DDR1,VARS2,MUCL3,HCG21,MUC22,PSORS1C1,CCHCR1,TCF19,POU5F1,LINC00243,SFTA2
kanduri_15_ASD_discovery_controls-control_split1355
Unknown
Intergenic CNV: nearest genes, HLA-B(dist=15339),MICA(dist=30031)
kanduri_15_ASD_discovery_controls-control_split187
Unknown
MICA
kanduri_15_ASD_discovery_controls-control_split402
Unknown
MICA
kanduri_15_ASD_discovery_controls-control_split624
Unknown
MICA
kanduri_15_ASD_discovery_controls-control_split672
Unknown
MICA
krumm_15_ASD_discovery_controls-control13851.s1
Omni2.5-4v1
Maternal
MIR4646,LY6G6F,LY6G6F-LY6G6D,LY6G6E,LY6G6D,DDAH2,ABHD16A,CLIC1,MSH5,MSH5-SAPCD1,MPIG6B,LY6G6C
nord_11_ASD_discovery_controls-04C28280
0 genes
poultney_13_ASD_discovery_controls-control05C40144A
Unknown
C4A-AS1,CYP21A1P,TNXA,STK19B,C4A,C4B,STK19
sanders_11_ASD_discovery_controls-11008.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11032.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11254.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11324.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11330.s1
Both parents
Simplex (quad)
NA
LINC02571,HLA-B
sanders_11_ASD_discovery_controls-11333.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11383.s1
Paternal
Simplex (quad)
NA
LINC00243
sanders_11_ASD_discovery_controls-11399.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11432.s1
Paternal
Simplex (quad)
NA
MICB
sanders_11_ASD_discovery_controls-11512.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11597.s1
Maternal
Simplex (quad)
NA
LINC00243
sanders_11_ASD_discovery_controls-11959.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11989.s1
Paternal
Simplex (quad)
NA
SUCLA2P1
sanders_11_ASD_discovery_controls-12014.s1
Unknown
Simplex (quad)
NA
HLA-C,HLA-B
sanders_11_ASD_discovery_controls-12061.s1
Maternal
Simplex (quad)
NA
HLA-C,HLA-B
sanders_11_ASD_discovery_controls-12361.s1
Paternal
Simplex (quad)
NA
HLA-C,HLA-B
sanders_11_ASD_discovery_controls-12515.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12786.s1
Maternal
Simplex (quad)
NA
MICB
sanders_11_ASD_discovery_controls-12944.s1
Paternal
Simplex (quad)
NA
LINC00243
sanders_11_ASD_discovery_controls-13001.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13006.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available