4p15.2CNV Type: Deletion-Duplication
Largest CNV size: 408601 bp
Statistics Box:
Number of Reports: 10
Number of Reports: 10
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
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
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
57952
1
0
1
egle_16_DD/ID_discovery_cases
Patients assessed in the course of the Lithuanian-Swiss cooperation programme "Research and Development", the joint research project "Unique Genome Variants in Congenital Neurodevelopment Disorders: Origin, Genomic Mechanisms, Functional and Clinical Consequences" (UNIGENE)
66
All cases present with either syndromic or non-syndromic developmental delay/intellectual disability (DD/ID), ranging from mild to profound
N/A
N/A
2500000
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
80578
0
2
2
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
20936
1
0
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
254000
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
20743
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
276478
0
1
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
181886
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
408601
3
19
22
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
352040
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
egle_16_DD/ID_discovery_controls
CNVs from the Database of Genomic Variants (DGV)
N/A
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
125642
0
3
3
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
20743
2
0
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
89110
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
276478
0
1
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)
44101
0
2
2
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
408601
2
16
18
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
352040
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
aCGH (Agilent 4x180K or 8x60K), PCR
egle_16_DD/ID_discovery_cases
Lithuania
aCGH
Agilent 60K, Agilent 105K, or Agilent 1M
ADM-2
Feature Extraction 10.7.3.1, CytoGenomics 3.0.0.27 (Agilent)
FISH or RT-PCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
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
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
egle_16_DD/ID_discovery_controls
N/A
N/A
N/A
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
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)
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
celestino-soper_11_ASD_discovery_cases-11533
NA
M
ASD
NA
NA
25120416
25178368
57953
GRCh38
Deletion
Yes
egle_16_DD/ID_discovery_cases-case15_1
4 yrs.
F
Developmental delay
Dysgenesis of the right iris, strabismus, thin upper lip, dens invaginatus, redundant periumbilical skin, sacral dimple
Developmental delay
22322841
24774751
2451911
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case14218_3510
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
27770429
27813116
42688
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6357_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
27755769
27836347
80579
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case686-3
6 yrs.
M
ASD
ASD; no other clinical information provided
N/A
27393364
27414300
20937
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-11483.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
23859279
24119279
260001
GRCh38
Duplication
No
kanduri_15_ASD_discovery_cases-case999561
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.
22048637
22069379
20743
Unknown
Deletion
No
levy_11_ASD_discovery_cases-11422.p1
NA
M
ASD
NA
NA
23843471
24119948
276478
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1200-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: unknown.
26583689
26765574
181886
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11097.p1
5.4
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 91; verbal IQ 99
25555425
25576891
21467
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11141.p1
6.7
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 81
25555935
25576891
20957
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11276.p1
7.7
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ 59
25968541
25982443
13903
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
25555425
25575562
20138
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11364.p1
10.1
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 106; verbal IQ, 104
25967309
25982443
15135
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11422.p1
6.1
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 96; verbal IQ, 106
23850709
24118765
268057
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11422.p1
6.1
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 96; verbal IQ, 106
27750233
28158834
408602
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11537.p1
14.3
F
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 66; verbal IQ, 63
25555425
25576891
21467
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11667.p1
5
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 56; verbal IQ, 51
27076754
27372199
295446
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11712.p1
5.5
M
ASD
NA
Full-scale IQ, 79; non-verbal IQ, 94; verbal IQ, 60
25555425
25575562
20138
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11872.p1
7.8
F
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 65; verbal IQ, 67
25555425
25573915
18491
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11892.p1
6.9
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 51; verbal IQ, 70
25555425
25569422
13998
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11972.p1
8.5
F
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 77
25555425
25569422
13998
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11982.p1
9.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 78; verbal IQ, 86
25555425
25573915
18491
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12093.p1
6
M
ASD
NA
Full-scale IQ, 113; non-verbal IQ, 120; verbal IQ, 97
25727437
25735110
7674
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12162.p1
4.3
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 68; verbal IQ, 75
25555425
25573915
18491
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12227.p1
12.4
M
Autism
NA
Full-scale IQ, 137; non-verbal IQ, 146; verbal IQ, 106
25555935
25576891
20957
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12555.p1
16.9
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 113; verbal IQ, 126
25555425
25575562
20138
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12628.p1
11.2
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 102; verbal IQ, 120
25555425
25575562
20138
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12681.p1
6.5
F
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 65; verbal IQ, 69
25554550
25576891
22342
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12704.p1
10.5
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 106
25555425
25569422
13998
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13174.p1
10
M
Aspergers
NA
Full-scale IQ, 106; non-verbal IQ, 93; verbal IQ, 126
24376854
24422531
45678
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case191
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
21638562
21990601
352040
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-controlB609802_1007875361
N/A
N/A
Control
No previous psychiatric history
25555425
25585525
30101
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB626857_1007872217
N/A
N/A
Control
No previous psychiatric history
24564198
24689840
125643
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900056_900056
N/A
N/A
Control
No previous psychiatric history
24975608
25034520
58913
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1055
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
22048637
22069379
20743
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split396
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
25970163
25983887
13725
Unknown
Deletion
No
krumm_15_ASD_discovery_controls-control13952.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
23795821
23884931
89111
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11422.s1
NA
F
Control
NA
NA
23843471
24119948
276478
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C41778
N/A
M
Control
NIMH Control (NIMH ID 47544)
22392543
22436643
44101
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C44633
N/A
F
Control
NIMH Control (NIMH ID 59719)
25003449
25028580
25132
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11002.s1
10.4
M
Control (matched sibling)
NA
NA
25555425
25575562
20138
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11246.s1
6.7
F
Control (matched sibling)
NA
NA
25555425
25576891
21467
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11422.s1
8.5
F
Control (matched sibling)
NA
NA
23850709
24124264
273556
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11422.s1
8.5
F
Control (matched sibling)
NA
NA
27750233
28158834
408602
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11440.s1
12.5
F
Control (matched sibling)
NA
NA
25555425
25573915
18491
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11537.s1
10.3
F
Control (matched sibling)
NA
NA
25555425
25575562
20138
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11580.s1
11.8
M
Control (matched sibling)
NA
NA
25555935
25573915
17981
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11584.s1
13.5
M
Control (matched sibling)
NA
NA
25555425
25576891
21467
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11627.s1
8.2
F
Control (matched sibling)
NA
NA
25555425
25560764
5340
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11667.s1
8.3
M
Control (matched sibling)
NA
NA
27076754
27375630
298877
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11712.s1
8.6
F
Control (matched sibling)
NA
NA
25555425
25576891
21467
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11810.s1
4.4
F
Control (matched sibling)
NA
NA
25351018
25352314
1297
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12051.s1
7.5
M
Control (matched sibling)
NA
NA
25556972
25576891
19920
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12227.s1
10.3
M
Control (matched sibling)
NA
NA
25558255
25576891
18637
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12250.s1
6
F
Control (matched sibling)
NA
NA
27910485
27915407
4923
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12255.s1
14.6
M
Control (matched sibling)
NA
NA
25555935
25575562
19628
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12690.s1
10.6
M
Control (matched sibling)
NA
NA
25556972
25576891
19920
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13327.s1
10.3
F
Control (matched sibling)
NA
NA
25555425
25576891
21467
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
celestino-soper_11_ASD_discovery_cases-11533
aCGH (Agilent 4x180K or 8x60K), PCR
De novo
Simplex
NA
SEPSECS,SEPSECS-AS1
egle_16_DD/ID_discovery_cases-case15_1
FISH or RT-PCR
De novo
CDC42P6,RFPL4AP3,MIR573,RN7SL16P,ATP5MGP3,LINC02473,HNRNPA1P65,DHX15,ADGRA3,GBA3,ERVH-1,PPARGC1A
engchuan_15_ASD_discovery_cases-case14218_3510
Unknown
engchuan_15_ASD_discovery_cases-case6357_3
Unknown
gazzellone_14_ASD_discovery_cases-case686-3
Unknown
Unknown
Unknown
girirajan_13a_ASD_discovery_cases-11483.p1
Unknown
Simplex
Unknown
PPARGC1A
kanduri_15_ASD_discovery_cases-case999561
Paternal
Unknown
Unknown
Intergenic CNV: nearest genes, KCNIP4(dist=98263),LOC100505912(dist=259611)
levy_11_ASD_discovery_cases-11422.p1
Paternal
Simplex
Not segregated
PPARGC1A
sajan_13_ACC/CBLH/PMG_discovery_cases-case1200-0
qPCR
Paternal
Unknown
Unknown
TBC1D19
sanders_11_ASD_discovery_cases-11097.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11141.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11276.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11330.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11364.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11422.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PPARGC1A
sanders_11_ASD_discovery_cases-11422.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11537.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11667.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02261
sanders_11_ASD_discovery_cases-11712.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11872.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11892.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11972.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11982.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12093.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12162.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12227.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12555.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12628.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12681.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12704.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13174.p1
Maternal
Simplex (quad-proband matched)
Not segregated
yin_16_ASD_discovery_cases-case191
Unknown
Unknown
Unknown
KCNIP4-IT1,KCNIP4
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB609802_1007875361
Unknown
engchuan_15_ASD_discovery_controls-controlB626857_1007872217
Unknown
ATP5MGP3,LINC02473,DHX15
engchuan_15_ASD_discovery_controls-controlHABC_900056_900056
Unknown
LGI2,CCDC149
kanduri_15_ASD_discovery_controls-control_split1055
Unknown
Intergenic CNV: nearest genes, KCNIP4(dist=98263),LOC100505912(dist=259611)
kanduri_15_ASD_discovery_controls-control_split396
Unknown
Intergenic CNV: nearest genes, SMIM20(dist=38662),RBPJ(dist=337445)
krumm_15_ASD_discovery_controls-control13952.s1
Omni2.5-4v1
Maternal
PPARGC1A
levy_11_ASD_discovery_controls-11422.s1
Paternal
Simplex
NA
PPARGC1A
poultney_13_ASD_discovery_controls-control05C41778
Unknown
ADGRA3
poultney_13_ASD_discovery_controls-control05C44633
Unknown
LGI2
sanders_11_ASD_discovery_controls-11002.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11246.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11422.s1
Paternal
Simplex (quad)
NA
PPARGC1A
sanders_11_ASD_discovery_controls-11422.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11440.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11537.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11580.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11584.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11627.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11667.s1
Maternal
Simplex (quad)
NA
LINC02261
sanders_11_ASD_discovery_controls-11712.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11810.s1
Paternal
Simplex (quad)
NA
ZCCHC4
sanders_11_ASD_discovery_controls-12051.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12227.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12250.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12255.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12690.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13327.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available