2p24.2CNV Type: Deletion-Duplication
Largest CNV size: 970000 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
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Deletion
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Duplication
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
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_cases
Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
128
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
N/A
82.81% Male
10327
0
1
1
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
970000
0
1
1
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
66614
1
0
1
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
463639
0
2
2
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
291324
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
997312
0
1
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)
185627
0
2
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
205788
24
3
27
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
445100
2
0
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
0
0
0
0
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
970000
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
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
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
213935
18
3
21
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_cases
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
christian_08_ASD_discovery_cases
235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
aCGH
RPCI 19K BAC microarray
FISH, microsatellite, qPCR
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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
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
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
christian_08_ASD_discovery_controls
262 Caucasians, 100 African-Americans
aCGH
RPCI 19K BAC microarray
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
bacchelli_20_ASD_discovery_cases-caseAB151
N/A
F
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
18146437
18156763
10327
GRCh38
Duplication
No
christian_08_ASD_discovery_cases-AU023012
NA
M
ASD
NA
NA
17225302
18197169
971868
GRCh38
Duplication
Yes
gai_11_ASD_discovery_cases-AU1271303
Autism
18687547
18754160
66614
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU023005
Autism
17279254
17742892
463639
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU023012
Autism
17289515
17742892
453378
Unknown
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case16D0761
1 mo. 28 days
F
Developmental delay/Intellectual disability
17750653
18041976
291324
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004161
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
17650673
18647986
997314
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case99HI0725B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU023005; NDAR ID N/A)
17510802
17696428
185627
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1001B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU023012; NDAR ID NDAR_INVGA547DEN)
17514010
17696428
182419
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11032.p1
5.8
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 84; verbal IQ, 103
17917938
18123727
205790
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11073.p1
9.7
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
17990546
18011576
21031
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11131.p1
7.6
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 75; verbal IQ 96
17040137
17051188
11052
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11207.p1
14.8
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 91; verbal IQ, 70
18144939
18161979
17041
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11283.p1
12
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 132; verbal IQ 84
17040137
17051188
11052
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11291.p1
4.8
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 99
17040137
17051188
11052
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11357.p1
9.5
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 112; verbal IQ, 91
18144939
18161979
17041
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11374.p1
8.8
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 112; verbal IQ, 120
17040137
17051188
11052
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11698.p1
8.4
F
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 110; verbal IQ, 117
17040137
17071487
31351
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11863.p1
5.3
M
Autism
NA
Full-scale IQ, 122; non-verbal IQ, 123; verbal IQ, 114
17040137
17051188
11052
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11922.p1
11.2
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 90
18471241
18485044
13804
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12031.p1
13.5
M
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 108; verbal IQ, 133
18679109
18691580
12472
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12081.p1
12.9
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 87; verbal IQ, 92
17040137
17060894
20758
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12210.p1
16.3
M
Autism
NA
Full-scale IQ, 18; non-verbal IQ, 19; verbal IQ, 19
18152604
18161979
9376
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12220.p1
14.4
F
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 43; verbal IQ, 13
17990546
18011576
21031
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12224.p1
4.3
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 85; verbal IQ, 78
17040137
17060894
20758
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12228.p1
6.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 117; verbal IQ, 90
17040137
17051188
11052
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12299.p1
6.3
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 113; verbal IQ, 125
17990546
18011576
21031
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12334.p1
8.9
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 75
17040137
17051188
11052
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12440.p1
7.3
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 75
17040137
17051188
11052
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12462.p1
16.8
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 113; verbal IQ, 108
17040137
17051188
11052
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12499.p1
6.9
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 67; verbal IQ, 56
17040137
17051188
11052
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12524.p1
6.4
F
Autism
NA
Full-scale IQ, 146; non-verbal IQ, 130; verbal IQ, 166
17040137
17051188
11052
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12578.p1
5.4
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 83; verbal IQ, 81
18471241
18491412
20172
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13077.p1
11.4
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 105
17995880
18011576
15697
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13196.p1
8.8
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 91; verbal IQ, 95
17040137
17051188
11052
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13303.p1
5.6
F
ASD
NA
Full-scale IQ, 101; non-verbal IQ, 107; verbal IQ, 90
17040137
17060894
20758
GRCh38
Deletion
No
szatmari_07_ASD_discovery_cases-NAAR023-A10-3047.002
NA
ASD
NA
NA
17010405
17455505
445101
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR023-B10-3047.004
NA
ASD
NA
NA
17010405
17455505
445101
GRCh38
Deletion
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
sanders_11_ASD_discovery_controls-11028.s1
12.9
M
Control (matched sibling)
NA
NA
17040137
17051188
11052
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11031.s1
12
M
Control (matched sibling)
NA
NA
17040137
17051188
11052
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11032.s1
3.7
M
Control (matched sibling)
NA
NA
17920956
18134892
213937
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11086.s1
9.3
M
Control (matched sibling)
NA
NA
17990546
18011576
21031
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11141.s1
5.2
F
Control (matched sibling)
NA
NA
17040137
17051188
11052
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11291.s1
13.6
F
Control (matched sibling)
NA
NA
17040137
17051188
11052
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11357.s1
4.7
F
Control (matched sibling)
NA
NA
18144939
18161979
17041
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11368.s1
8.1
F
Control (matched sibling)
NA
NA
17040137
17051188
11052
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11571.s1
6.3
F
Control (matched sibling)
NA
NA
17040137
17051188
11052
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11622.s1
11.1
F
Control (matched sibling)
NA
NA
17040137
17060894
20758
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11863.s1
8
F
Control (matched sibling)
NA
NA
17040137
17051188
11052
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11868.s1
5.2
F
Control (matched sibling)
NA
NA
17040137
17051188
11052
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12206.s1
13.1
M
Control (matched sibling)
NA
NA
17040137
17051188
11052
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12210.s1
18.8
M
Control (matched sibling)
NA
NA
18144939
18161979
17041
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12299.s1
9.7
F
Control (matched sibling)
NA
NA
17990546
18011576
21031
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12334.s1
4.2
M
Control (matched sibling)
NA
NA
17040137
17051188
11052
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12499.s1
9.4
M
Control (matched sibling)
NA
NA
18144939
18161979
17041
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12703.s1
15.3
F
Control (matched sibling)
NA
NA
17040137
17051188
11052
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12741.s1
5.9
M
Control (matched sibling)
NA
NA
17040137
17051188
11052
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12956.s1
7.4
F
Control (matched sibling)
NA
NA
18171735
18174785
3051
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13018.s1
7.9
M
Control (matched sibling)
NA
NA
18471241
18482545
11305
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_cases-caseAB151
Maternal
Simplex
KCNS3
christian_08_ASD_discovery_cases-AU023012
FISH, microsatellite
inherited
Multiplex
NA
ZFYVE9P2,PSMC1P10,MSGN1,RAD51AP2,GEN1,VSNL1,SMC6,KCNS3
gai_11_ASD_discovery_cases-AU1271303
Inherited
0 genes
gai_11_ASD_replication_cases-AU023005
Inherited
RAD51AP2, VSNL1, SMC6
gai_11_ASD_replication_cases-AU023012
Inherited
RAD51AP2, VSNL1, SMC6
han_22_ASD/DD/ID_discovery_cases-case16D0761
Unknown
SMC6,MSGN1,GEN1,KCNS3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004161
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MSGN1,RDH14,RNU6-1215P,GEN1,NT5C1B-RDH14,NT5C1B,VSNL1,SMC6,KCNS3
poultney_13_ASD_discovery_cases-case99HI0725B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RAD51AP2,VSNL1,SMC6
poultney_13_ASD_discovery_cases-case99HI1001B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RAD51AP2,VSNL1,SMC6
sanders_11_ASD_discovery_cases-11032.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KCNS3
sanders_11_ASD_discovery_cases-11073.p1
Maternal
Simplex (quad-proband matched)
Segregated
KCNS3
sanders_11_ASD_discovery_cases-11131.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11207.p1
Maternal
Simplex (quad-proband matched)
Segregated
KCNS3
sanders_11_ASD_discovery_cases-11283.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11291.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11357.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KCNS3
sanders_11_ASD_discovery_cases-11374.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11698.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11863.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11922.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12031.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12081.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12210.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KCNS3
sanders_11_ASD_discovery_cases-12220.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KCNS3
sanders_11_ASD_discovery_cases-12224.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12228.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12299.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KCNS3
sanders_11_ASD_discovery_cases-12334.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12440.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12462.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12499.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12524.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12578.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-13077.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KCNS3
sanders_11_ASD_discovery_cases-13196.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13303.p1
Maternal
Simplex (quad-proband matched)
Not segregated
szatmari_07_ASD_discovery_cases-NAAR023-A10-3047.002
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
RN7SKP168,ZFYVE9P2,PSMC1P10
szatmari_07_ASD_discovery_cases-NAAR023-B10-3047.004
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
RN7SKP168,ZFYVE9P2,PSMC1P10
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-11028.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11031.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11032.s1
Paternal
Simplex (quad)
NA
KCNS3
sanders_11_ASD_discovery_controls-11086.s1
Paternal
Simplex (quad)
NA
KCNS3
sanders_11_ASD_discovery_controls-11141.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11291.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11357.s1
Paternal
Simplex (quad)
NA
KCNS3
sanders_11_ASD_discovery_controls-11368.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11571.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11622.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11863.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11868.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12206.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12210.s1
Paternal
Simplex (quad)
NA
KCNS3
sanders_11_ASD_discovery_controls-12299.s1
Maternal
Simplex (quad)
NA
KCNS3
sanders_11_ASD_discovery_controls-12334.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12499.s1
Paternal
Simplex (quad)
NA
KCNS3
sanders_11_ASD_discovery_controls-12703.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12741.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12956.s1
Maternal
Simplex (quad)
NA
KCNS3
sanders_11_ASD_discovery_controls-13018.s1
Unknown
Simplex (quad)
NA
No Animal Model Data Available