6q11.1CNV Type: Deletion-Duplication
Largest CNV size: 805727 bp
Statistics Box:
Number of Reports: 9
Number of Reports: 9
Summary Information
Summary statement in development
Additional Locus Information
References
Major 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
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardation.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-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
724248
0
1
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
417229
1
4
5
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
290691
0
1
1
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
406840
0
1
1
mosrati_12_ASD/MR_discovery_cases
Affected siblings from a consanguineous Tunisian family with moderate to profound congenital hearing loss associated with mental retardation and autistic behavior.
3
Congenital hearing loss (3/3), mental retardation (2/3), and autistic traits (2/3)
Range, 22-31 yrs.
66.67% Male
38689
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)
367036
0
1
1
salyakina_11_ASD_discovery_cases
ASD patients from extended ASD families (defined as families with at least two affected cousins)
97
ASD. Inclusion criteria: (1) age between 3 and 21 yrs of age; (2) presumptive clinical diagnosis of ASD; (3) diagnosis determined using DSM-IV criteria supported by ADI-R; (4) IQ > 35 or developmental level >18 months as described by VABS
Range, 3-21 yrs.
12846
2
0
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
805727
3
29
32
sandoval_talamantes_23_ASD_discovery_cases
ASD patients recruited from 2016 to 2019 among patients from the genetic or neuropediatric clinics of La Paz University Hospital (Madrid, Spain).
212
All cases met DSM-5 diagnostic criteria for ASD.
Mean age, 10.73 +/- 6.42 yrs. (median age, 10 yrs.)
87.73% Male
1098246
0
1
1
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
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
236388
2
1
3
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
N/A
1
2
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
39357
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
496350
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)
51806
0
1
1
salyakina_11_ASD_discovery_controls
Pediatric control samples recruited by Hussman Institute for Human Genomics (HHIG, Univ. of Miami) and Centennial Medical Center (Nashville, TN) as part of preterm birth study (Nashville Borth Cohort, NBC)
838
Controls. Exclusion criteria: participants, or those with first degree relatives, with developmental, behavioral, or neurological conditions
12846
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.
233152
3
28
31
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
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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
aCGH (NimbleGen 135K array)
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
mosrati_12_ASD/MR_discovery_cases
Tunisian
Solid phase hybridization
Illumina HumanCyto12v2.0 BeadChip
QuantiSNP, PennCNV, VanillaICE
BeadStudio V3.3
None
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
salyakina_11_ASD_discovery_cases
Solid phase hybridization
Illumina Human 1Mv1_C BeadChip or Illumina 1M-DuoV3 BeadChip
PennCNV
BeadStudio v3
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
qPCR
sandoval_talamantes_23_ASD_discovery_cases
Spain
aCGH
KaryoArray v.3.0
NA
Agilent CytoGenomics
None
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
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
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)
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
salyakina_11_ASD_discovery_controls
727 Caucasian, 111 African-American
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-caseAB41
N/A
M
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
61468685
62192932
724248
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case17033_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
62203462
62620691
417230
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case2276_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
62151250
62299128
147878
NCBI36
Duplication
No
engchuan_15_ASD_discovery_cases-case3452_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
61788570
62144880
356311
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3610_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
62151250
62299128
147878
NCBI36
Duplication
No
engchuan_15_ASD_discovery_cases-case5530_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
62117600
62299128
181528
NCBI36
Duplication
No
girirajan_13a_ASD_discovery_cases-AU062003
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
61926730
62217421
290692
GRCh38
Duplication
Yes
han_22_ASD/DD/ID_discovery_cases-caseY26
2 yrs. 8 mos.
F
ASD
61468684
61875523
406840
GRCh38
Duplication
No
mosrati_12_ASD/MR_discovery_cases-caseV5
26 yrs.
M
Autistic traits
Behavioral and psychiatric evaluation: autistic traits reminiscent of Asperger syndrome. Language and communication evaluation: no oral speech; able to have coherent hand-sign conservation with mother and unaffected brother. Visual and auditory evaluation: moderate hearing loss. Family history: consanguineous parents; brother with autistic traits, mental retardation, and hearing loss; sister with mental retardation and hearing loss (no autistic traits).
No mental retardation
61949077
61987766
38689
Unknown
Deletion
No
poultney_13_ASD_discovery_cases-case00HI1396B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU062003; NDAR ID NDAR_INVLE469CR9)
61680961
62047996
367036
GRCh38
Duplication
No
salyakina_11_ASD_discovery_cases-17342_001
M
Autism
61739173
61752019
12847
GRCh38
Deletion
Yes
salyakina_11_ASD_discovery_cases-17342_100
M
Asperger
ADHD symptoms
61739173
61752019
12847
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11011.p1
8.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 88; verbal IQ, 69
61322636
61352246
29611
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11043.p1
8.4
F
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 106
61322636
61352246
29611
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11132.p1
4.3
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 49; verbal IQ, 32
151177
196560
45384
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11135.p1
6.3
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 102
161295
196560
35266
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11152.p1
6.7
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 61; verbal IQ, 57
161295
196560
35266
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11167.p1
11
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 105
150937
196560
45624
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11297.p1
12.8
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 98; verbal IQ 73
61475343
61480008
4666
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11312.p1
10
M
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 109; verbal IQ, 96
161295
196560
35266
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11333.p1
9.8
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 53
150937
196560
45624
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11355.p1
8.8
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 73; verbal IQ, 67
161295
196560
35266
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11357.p1
9.5
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 112; verbal IQ, 91
161295
196560
35266
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11359.p1
5.5
M
ASD
NA
Full-scale IQ, 88; non-verbal IQ, 96; verbal IQ, 81
161295
196560
35266
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11421.p1
7.1
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 73; verbal IQ, 51
61322636
61352246
29611
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11445.p1
8.1
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 90; verbal IQ, 67
61322636
61352246
29611
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11452.p1
8.5
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 80; verbal IQ, 85
61322636
61352246
29611
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11471.p1
13.9
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 89; verbal IQ, 31
61322636
61352246
29611
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11781.p1
7
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 86; verbal IQ, 88
150937
196560
45624
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11942.p1
10.3
M
Autism
NA
Full-scale IQ, 50; non-verbal IQ, 44; verbal IQ, 62
150937
196560
45624
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11963.p1
6.1
M
ASD
NA
Full-scale IQ, 93; non-verbal IQ, 90; verbal IQ, 104
61270210
61352246
82037
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11990.p1
11.4
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 81; verbal IQ, 78
61475343
61513352
38010
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12020.p1
17.3
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 115; verbal IQ, 114
61320002
61352246
32245
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12044.p1
5.6
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 75; verbal IQ, 76
61119913
61324381
204469
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12077.p1
10.9
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 52
155252
196560
41309
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12296.p1
15.3
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 88; verbal IQ, 52
61119913
61322636
202724
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12379.p1
7.1
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 86
61320002
61352246
32245
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12396.p1
8.3
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
61739173
61752019
12847
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12430.p1
9.8
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 110; verbal IQ, 106
61942912
62473650
530738
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-12664.p1
11.4
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 96; verbal IQ, 89
61475343
61492394
17052
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12757.p1
5.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 62; verbal IQ, 55
61469398
61510804
41407
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12939.p1
12.8
M
Autism
NA
Full-scale IQ, 20; non-verbal IQ, 28; verbal IQ, 11
155252
196560
41309
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12997.p1
9.6
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 94; verbal IQ, 103
155252
196560
41309
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13036.p1
11.9
M
Autism
NA
Full-scale IQ, 27; non-verbal IQ, 36; verbal IQ, 19
61468685
61980775
512091
GRCh38
Duplication
Yes
sandoval_talamantes_23_ASD_discovery_cases-caseAUT29
NA
NA
ASD
Case met DSM-5 diagnostic criteria for ASD.
61109122
62207367
1098246
GRCh38
Duplication
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-controlHABC_900307_900307
N/A
N/A
Control
No previous psychiatric history
61469398
61705786
236389
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901188_901188
N/A
N/A
Control
No previous psychiatric history
62144592
62306008
161416
NCBI36
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901216_901216
N/A
N/A
Control
No previous psychiatric history
62144592
62306008
161416
NCBI36
Deletion
No
girirajan_13a_ASD_discovery_controls2-control28
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Deletion
No
girirajan_13a_ASD_discovery_controls2-control29
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Duplication
No
girirajan_13a_ASD_discovery_controls2-control30
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Duplication
No
kanduri_15_ASD_discovery_controls-control_split811
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
62183901
62223257
39357
Unknown
Duplication
No
krumm_15_ASD_discovery_controls-control13115.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
62177184
62285948
108765
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14268.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
61680962
62177312
496351
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_controls-control04C28665A
N/A
M
Control
NIMH Control (NIMH ID 14323)
61680961
61732766
51806
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11055.s1
11.3
F
Control (matched sibling)
NA
NA
155252
196560
41309
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11089.s1
9.3
M
Control (matched sibling)
NA
NA
161295
196560
35266
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11090.s1
14.8
M
Control (matched sibling)
NA
NA
150937
196560
45624
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11150.s1
6.5
M
Control (matched sibling)
NA
NA
61322636
61352246
29611
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11172.s1
13.6
F
Control (matched sibling)
NA
NA
161295
196560
35266
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11195.s1
11.1
F
Control (matched sibling)
NA
NA
161295
196560
35266
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11206.s1
8.3
F
Control (matched sibling)
NA
NA
61322636
61352246
29611
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11207.s1
17.9
F
Control (matched sibling)
NA
NA
61322636
61352246
29611
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11247.s1
4.7
F
Control (matched sibling)
NA
NA
62389851
62405312
15462
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11256.s1
14
M
Control (matched sibling)
NA
NA
150937
196560
45624
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11284.s1
7.1
F
Control (matched sibling)
NA
NA
161295
196560
35266
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11368.s1
8.1
F
Control (matched sibling)
NA
NA
61322636
61352246
29611
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11495.s1
7.5
M
Control (matched sibling)
NA
NA
61322636
61352246
29611
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11667.s1
8.3
M
Control (matched sibling)
NA
NA
155252
196560
41309
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11694.s1
6.6
F
Control (matched sibling)
NA
NA
155252
196560
41309
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11714.s1
4.3
M
Control (matched sibling)
NA
NA
155252
196560
41309
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11792.s1
8.6
M
Control (matched sibling)
NA
NA
150937
196560
45624
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11872.s1
6
F
Control (matched sibling)
NA
NA
155252
196560
41309
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11892.s1
9.1
F
Control (matched sibling)
NA
NA
61320002
61352246
32245
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11928.s1
14.1
M
Control (matched sibling)
NA
NA
150937
196560
45624
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11942.s1
14.6
M
Control (matched sibling)
NA
NA
150937
196560
45624
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11959.s1
9.7
F
Control (matched sibling)
NA
NA
150937
196560
45624
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11979.s1
6.3
F
Control (matched sibling)
NA
NA
150937
196560
45624
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12020.s1
13.8
M
Control (matched sibling)
NA
NA
61469398
61513352
43955
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12044.s1
8.8
M
Control (matched sibling)
NA
NA
61119913
61352246
232334
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12071.s1
19.6
M
Control (matched sibling)
NA
NA
161295
196560
35266
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12233.s1
6.8
F
Control (matched sibling)
NA
NA
61739173
61752019
12847
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12366.s1
7.8
F
Control (matched sibling)
NA
NA
61322636
61352246
29611
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12790.s1
8.9
F
Control (matched sibling)
NA
NA
155252
196560
41309
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12867.s1
18.8
M
Control (matched sibling)
NA
NA
155252
196560
41309
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13005.s1
6.8
F
Control (matched sibling)
NA
NA
61320002
61352246
32245
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_cases-caseAB41
Paternal
Simplex
MTRNR2L9,KHDRBS2
engchuan_15_ASD_discovery_cases-case17033_1
Unknown
DHFRP5,KHDRBS2
engchuan_15_ASD_discovery_cases-case2276_1
Unknown
0 genes
engchuan_15_ASD_discovery_cases-case3452_3
Unknown
KHDRBS2
engchuan_15_ASD_discovery_cases-case3610_3
Unknown
0 genes
engchuan_15_ASD_discovery_cases-case5530_4
Unknown
0 genes
girirajan_13a_ASD_discovery_cases-AU062003
aCGH (NimbleGen 135K array)
Paternal
Multiplex
Unknown
KHDRBS2
han_22_ASD/DD/ID_discovery_cases-caseY26
Paternal
KHDRBS2,MTRNR2L9,KHDRBS2-OT1
mosrati_12_ASD/MR_discovery_cases-caseV5
Unknown
Multiplex
Unknown
0 genes
poultney_13_ASD_discovery_cases-case00HI1396B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
KHDRBS2-OT,KHDRBS2
salyakina_11_ASD_discovery_cases-17342_001
qPCR
Maternal
Simplex
Segregated
KHDRBS2
salyakina_11_ASD_discovery_cases-17342_100
qPCR
Maternal
Simplex
Segregated
KHDRBS2
sanders_11_ASD_discovery_cases-11011.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11043.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11132.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11135.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11152.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11167.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11297.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11312.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11333.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11355.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11357.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11359.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11421.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11445.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11452.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11471.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11781.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11942.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11963.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11990.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12020.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12044.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12077.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12296.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12379.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12396.p1
Paternal
Simplex (quad-proband matched)
Segregated
KHDRBS2
sanders_11_ASD_discovery_cases-12430.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KHDRBS2
sanders_11_ASD_discovery_cases-12664.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12757.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12939.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12997.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13036.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
MTRNR2L9,KHDRBS2-OT,KHDRBS2
sandoval_talamantes_23_ASD_discovery_cases-caseAUT29
Unknown
KHDRBS2,MTRNR2L9,KHDRBS2-OT1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900307_900307
Unknown
MTRNR2L9,KHDRBS2-OT,KHDRBS2
engchuan_15_ASD_discovery_controls-controlHABC_901188_901188
Unknown
0 genes
engchuan_15_ASD_discovery_controls-controlHABC_901216_901216
Unknown
0 genes
girirajan_13a_ASD_discovery_controls2-control28
Unknown
KHDRBS2
girirajan_13a_ASD_discovery_controls2-control29
Unknown
KHDRBS2
girirajan_13a_ASD_discovery_controls2-control30
Unknown
KHDRBS2
kanduri_15_ASD_discovery_controls-control_split811
Unknown
Intergenic CNV: nearest genes, MTRNR2L9(dist=60751)
krumm_15_ASD_discovery_controls-control13115.s1
1M-Duov3
Maternal
KHDRBS2
krumm_15_ASD_discovery_controls-control14268.s1
Omni2.5-4v1
Paternal
KHDRBS2-OT,KHDRBS2
poultney_13_ASD_discovery_controls-control04C28665A
Unknown
KHDRBS2-OT,KHDRBS2
sanders_11_ASD_discovery_controls-11055.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11089.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11090.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11150.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11172.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11195.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11206.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11207.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11247.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11256.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11284.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11368.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11495.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11667.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11694.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11714.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11792.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11872.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11892.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11928.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11942.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11959.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11979.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12020.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12044.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12071.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12233.s1
Maternal
Simplex (quad)
NA
KHDRBS2
sanders_11_ASD_discovery_controls-12366.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12790.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12867.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13005.s1
Both parents
Simplex (quad)
NA
No Animal Model Data Available