1p35.2CNV Type: Deletion-Duplication
Largest CNV size: 630800 bp
Statistics Box:
Number of Reports: 13
Number of Reports: 13
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
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
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
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
Global increases in both common and rare copy number load associated with autism.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
616597
1
1
2
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
616401
1
1
2
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
20005
0
1
1
girirajan_13b_ASD_discovery_cases
Children with autism 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 (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
608543
1
0
1
hnoonual_17_ASD_discovery_cases
Cohort of 114 Thai ASD probands (68 retrospective ASD cases with the use of chromosomal microarray/CMA as a second line test; 46 prospective ASD and developmental delay cases with the use of CMA as the first-tier test)
114
68 cases with non-syndromic ASD (61 of which also presented with intellectual disability) were diagnosed with ASD based on meeting DSM-IV criteria for ASD, whereas an additional 46 prospective ASD and DD cases were given a clinical diagnosis of ASD based on DSM-5 criteria.
Range, 1-18 years (at time of recruitment)
79.82% Male
220000
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
588449
2
1
3
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
61875
0
2
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
61875
0
2
2
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
600000
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
616598
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)
72825
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
76530
3
1
4
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
630800
3
0
3
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
10702
1
0
1
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
552173
1
2
3
girirajan_13a_ASD_discovery_controls1
NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
580
Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
NA
NA
0
0
0
0
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
0
0
0
0
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
0
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
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
60909
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)
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.
76530
1
2
3
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
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)
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 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
None
hnoonual_17_ASD_discovery_cases
Thai
Solid phase hybridization
Illumina Infinium CytoSNP-850K v1.1 BeadChip
BlueFuse Multi v4.3, GenomeStudio Data Analysis v.2011.1
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
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
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
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13a_ASD_discovery_controls1
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
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
None
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
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
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
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
engchuan_15_ASD_discovery_cases-case1116_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30089219
30705816
616598
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4548_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30694714
30779359
84646
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU027304
Autism
30334850
30951250
616401
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU079905
Autism
30924087
31024793
100707
Unknown
Duplication
No
girirajan_13a_ASD_discovery_cases-AU020705
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
30932608
30952613
20006
GRCh38
Duplication
Yes
girirajan_13b_ASD_discovery_cases-50104101765
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
30092368
30700911
608544
GRCh38
Deletion
No
hnoonual_17_ASD_discovery_cases-caseTM41-3
N/A
M
ASD
No additional clinical features
31235124
31455540
220417
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001041
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30116821
30696608
579788
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003773
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30116821
30696608
579788
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003894
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29860227
30448676
588450
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case12647.p1
N/A
M
ASD
ASD proband from SSC quad family 12647. SRS score of 88.
Full-scale IQ (FSIQ) score of 72.
31619192
31644864
25673
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13730.p1
N/A
F
ASD
ASD proband from SSC quad family 13730. SRS score of 68.
Full-scale IQ (FSIQ) score of 94.
31619192
31681067
61876
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case12787.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
31619192
31681067
61876
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13730.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
31619192
31681067
61876
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_cases-AU0273304
N/A
M
ASD
30089153
30706153
617001
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case1116_4
NA
M
ASD
NA
NA
30089219
30705816
616598
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case01HI2130A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU079905; NDAR ID NDAR_INVTL336MH0)
30715155
30757747
42593
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0209A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU020703; NDAR ID NDAR_INVCU793UL4)
30933209
31006033
72825
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11131.p1
7.6
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 75; verbal IQ 96
30013281
30015493
2213
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
30013281
30015493
2213
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12337.p1
11.6
M
ASD
NA
Full-scale IQ, 121; non-verbal IQ, 112; verbal IQ, 131
30550444
30555288
4845
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12787.p1
7.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 130; verbal IQ, 88
31604633
31681163
76531
GRCh38
Duplication
No
szatmari_07_ASD_discovery_cases-NAAR047-C10-01C08464
NA
ASD
NA
NA
30123760
30675060
551301
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR047-C8-01C08462
NA
ASD
NA
NA
30123760
30675060
551301
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR060-G3-HI2323
NA
ASD
NA
NA
30123760
30754560
630801
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
brandler_18_ASD_discovery_controls-controlSSC12864
N/A
M
Control
Control from SSC cohort
30388141
30398843
10703
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-controlB268107_1007853890
N/A
N/A
Control
No previous psychiatric history
30676109
30779359
103251
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900874_900874
N/A
N/A
Control
No previous psychiatric history
30862532
31183914
321383
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901245_901245
N/A
N/A
Control
No previous psychiatric history
30100261
30652434
552174
GRCh38
Deletion
No
krumm_15_ASD_discovery_controls-control12787.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
31619192
31680101
60910
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-12626.s1
16.3
F
Control (matched sibling)
NA
NA
31944881
31946937
2057
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12787.s1
10.8
F
Control (matched sibling)
NA
NA
31604633
31681163
76531
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13195.s1
10.1
M
Control (matched sibling)
NA
NA
29871941
29895216
23276
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case1116_4
Unknown
engchuan_15_ASD_discovery_cases-case4548_1
Unknown
MIR4420,MATN1,MATN1-AS1,LAPTM5
gai_11_ASD_replication_cases-AU027304
Inherited
0 genes
gai_11_ASD_replication_cases-AU079905
Inherited
MATN1, LAPTM5
girirajan_13a_ASD_discovery_cases-AU020705
aCGH (NimbleGen 135K array)
Paternal
Multiplex
Unknown
PUM1
girirajan_13b_ASD_discovery_cases-50104101765
Unknown
Unknown
Unknown
hnoonual_17_ASD_discovery_cases-caseTM41-3
De novo
SNRNP40,FABP3,SERINC2,NKAIN1,ZCCHC17
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001041
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003773
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003894
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01648
krumm_13_ASD_discovery_cases-case12647.p1
Maternal
Simplex
Segregated
HCRTR1,PEF1
krumm_13_ASD_discovery_cases-case13730.p1
Maternal
Simplex
Segregated
HCRTR1,PEF1,COL16A1
krumm_15_ASD_discovery_cases-case12787.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
HCRTR1,PEF1,COL16A1
krumm_15_ASD_discovery_cases-case13730.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
HCRTR1,PEF1,COL16A1
leppa_16_ASD_discovery_cases-AU0273304
Maternal
Multiplex
Not segregated (CNV not present in affected sibling)
pinto_10_ASD_discovery_cases-case1116_4
Illumina550;Affy5.0
maternal
NA
NA
poultney_13_ASD_discovery_cases-case01HI2130A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MIR4420,MATN1,MATN1-AS1,LAPTM5
poultney_13_ASD_discovery_cases-case98HI0209A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PUM1
sanders_11_ASD_discovery_cases-11131.p1
Paternal
Simplex (trio)
NA
LINC01648
sanders_11_ASD_discovery_cases-11597.p1
Maternal
Simplex (quad-proband matched)
Segregated
LINC01648
sanders_11_ASD_discovery_cases-12337.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12787.p1
Maternal
Simplex (quad-proband matched)
Not segregated
HCRTR1,PEF1,COL16A1
szatmari_07_ASD_discovery_cases-NAAR047-C10-01C08464
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
szatmari_07_ASD_discovery_cases-NAAR047-C8-01C08462
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
szatmari_07_ASD_discovery_cases-NAAR060-G3-HI2323
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
MIR4420,MATN1,MATN1-AS1,LAPTM5
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC12864
SNP VCF
De novo
engchuan_15_ASD_discovery_controls-controlB268107_1007853890
Unknown
MIR4420,MATN1,MATN1-AS1,LAPTM5
engchuan_15_ASD_discovery_controls-controlHABC_900874_900874
Unknown
RN7SL371P,SELENOWP1,SDC3,PUM1,NKAIN1
engchuan_15_ASD_discovery_controls-controlHABC_901245_901245
Unknown
krumm_15_ASD_discovery_controls-control12787.s1
Illumina 1MDuo
Maternal
HCRTR1,PEF1,COL16A1
sanders_11_ASD_discovery_controls-12626.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12787.s1
Maternal
Simplex (quad)
NA
HCRTR1,PEF1,COL16A1
sanders_11_ASD_discovery_controls-13195.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available