12p11.23CNV Type: Duplication
Largest CNV size: 25500 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
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Duplication
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
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis...
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
gannon_11_ASD/DD_discovery_cases
Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
187
Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
Mean age, ~44 mos.
~82% Male
310000
0
1
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
425141
0
1
1
girirajan_13a_DD_discovery_cases
Data from individuals with developmental delay derived from two published reports (Cooper et al., 2011 & Kaminsky et al., 2011)
31518
Developmental delay
NA
NA
425141
0
4
4
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
480885
1
1
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
6442
30
0
30
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)
456054
0
1
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
54050
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
483597
0
1
1
shin_15_ASD/DD/ID_discovery_cases
Patients with normal karyotype referred for further genetic testing from March 2012-April 2014
96
34 cases with ASD, 54 cases with DD/ID, 8 cases with ASD and DD/ID
N/A
69.8% Male
510000
0
1
1
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
25500
0
2
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
705892
0
1
1
girirajan_13a_ASD_discovery_controls3
Controls assessed for CNVs within 120 SD-mediated hotspots; includes 2090 controls from Wellcome Trust Case-Control Consortium (girirajan_13_ASD_discovery_controls2)
8329
Control
NA
NA
425141
0
2
2
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
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
444840
2
1
3
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
337395
18
1
19
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)
348432
0
2
2
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
54050
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
gannon_11_ASD/DD_discovery_cases
Gulf Coast of Alabama, Mississippi, & Florida
aCGH
Genome-wide oligo array with 44K platform
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_13a_DD_discovery_cases
NA
N/A
N/A
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_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
shin_15_ASD/DD/ID_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.2.1, Nexus Copy Number v.7.5 (BioDiscovery)
None
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
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_13a_ASD_discovery_controls3
NA
Array SNP
N/A
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
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
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
gannon_11_ASD/DD_discovery_cases-patient41
ASD
Mild dysmorphism (Underdeveloped outer eyebrows and prominent forehead)
IQ<70
NA
NA
310000
Unknown
Duplication
No
girirajan_13a_ASD_discovery_cases-13784.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
27151923
27577064
425142
GRCh38
Duplication
Yes
girirajan_13a_DD_discovery_cases-DDcase136
N/A
N/A
Developmental delay
N/A
N/A
27151923
27577064
425142
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase137
N/A
N/A
Developmental delay
N/A
N/A
27151923
27577064
425142
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase138
N/A
N/A
Developmental delay
N/A
N/A
27151923
27577064
425142
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase139
N/A
N/A
Developmental delay
N/A
N/A
27151923
27577064
425142
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002268
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
27161598
27642483
480886
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004930
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
27192518
27615518
423001
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11006.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11074.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11075.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11077.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11141.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11160.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11546.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11922.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11979.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12153.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12162.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12233.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12249.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12744.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12857.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13077.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13079.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13102.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13346.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13498.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13501.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13653.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13657.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13658.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13798.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13815.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13870.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13927.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14263.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14400.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
27495679
27502121
6443
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case99HI1144B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU020404; NDAR ID NDAR_INVPN168CVH)
26924353
27380406
456054
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case168999
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
26926290
26980339
54050
Unknown
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-130
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
27151945
27635541
483597
GRCh38
Duplication
No
shin_15_ASD/DD/ID_discovery_cases-case25
10 yrs.
M
ASD
ASD
27130518
27640704
510187
GRCh38
Duplication
No
szatmari_07_ASD_discovery_cases-NAAR047-E2-01C08482
NA
ASD
NA
NA
27426000
27451500
25501
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR047-E5-01C08485
NA
ASD
NA
NA
27426000
27451500
25501
GRCh38
Duplication
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
girirajan_11_ASD_discovery_controls-NIMH_306
NA
NA
Control
NA
NA
26926125
27632017
705893
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_controls3-control4
N/A
N/A
Control
N/A
N/A
27151923
27577064
425142
GRCh38
Unknown
No
girirajan_13a_ASD_discovery_controls3-control5
N/A
N/A
Control
N/A
N/A
27151923
27577064
425142
GRCh38
Unknown
No
kanduri_15_ASD_discovery_controls-control_split1760
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
27648411
27654546
6136
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split216
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
27315291
27760130
444840
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split549
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
27648411
27654546
6136
Unknown
Deletion
No
krumm_15_ASD_discovery_controls-control11077.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11519.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11569.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11676.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11979.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12233.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12399.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12803.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12857.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13035.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13036.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13070.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13653.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13793.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13798.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13850.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13864.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
27495679
27502121
6443
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13910.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
27297720
27635115
337396
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14201.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
27495679
27502121
6443
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_controls-control04C29259A
N/A
F
Control
NIMH Control (NIMH ID 86407)
27297719
27646150
348432
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C37906A
N/A
F
Control
NIMH Control (NIMH ID 97860)
27297719
27635117
337399
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
gannon_11_ASD/DD_discovery_cases-patient41
Unknown
Unknown
NA
girirajan_13a_ASD_discovery_cases-13784.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
RARSP1,SMCO2,ARNTL2,ARNTL2-AS1,PPFIBP1,STK38L
girirajan_13a_DD_discovery_cases-DDcase136
Unknown
RARSP1,SMCO2,ARNTL2,ARNTL2-AS1,PPFIBP1,STK38L
girirajan_13a_DD_discovery_cases-DDcase137
Unknown
RARSP1,SMCO2,ARNTL2,ARNTL2-AS1,PPFIBP1,STK38L
girirajan_13a_DD_discovery_cases-DDcase138
Unknown
RARSP1,SMCO2,ARNTL2,ARNTL2-AS1,PPFIBP1,STK38L
girirajan_13a_DD_discovery_cases-DDcase139
Unknown
RARSP1,SMCO2,ARNTL2,ARNTL2-AS1,PPFIBP1,STK38L
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002268
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RARSP1,SMCO2,ARNTL2,ARNTL2-AS1,PPFIBP1,STK38L
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004930
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RARSP1,SMCO2,ARNTL2,ARNTL2-AS1,PPFIBP1,STK38L
krumm_15_ASD_discovery_cases-case11006.p1
Illumina 1M
Paternal
Simplex
Segregated
RARSP1,SMCO2
krumm_15_ASD_discovery_cases-case11074.p1
Illumina 1M
Paternal
Simplex
Segregated
RARSP1,SMCO2
krumm_15_ASD_discovery_cases-case11075.p1
Illumina 1M
Paternal
Simplex
Segregated
RARSP1,SMCO2
krumm_15_ASD_discovery_cases-case11077.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
RARSP1,SMCO2
krumm_15_ASD_discovery_cases-case11141.p1
Illumina 1M
Maternal
Simplex
Segregated
RARSP1,SMCO2
krumm_15_ASD_discovery_cases-case11160.p1
Illumina 1M
Paternal
Simplex
Segregated
RARSP1,SMCO2
krumm_15_ASD_discovery_cases-case11546.p1
Illumina 1M
Maternal
Simplex
Segregated
RARSP1,SMCO2
krumm_15_ASD_discovery_cases-case11922.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
RARSP1,SMCO2
krumm_15_ASD_discovery_cases-case11979.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
RARSP1,SMCO2
krumm_15_ASD_discovery_cases-case12153.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
RARSP1,SMCO2
krumm_15_ASD_discovery_cases-case12162.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
RARSP1,SMCO2
krumm_15_ASD_discovery_cases-case12233.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
RARSP1,SMCO2
krumm_15_ASD_discovery_cases-case12249.p1
1M-Duov3
Paternal
Simplex
Segregated
RARSP1,SMCO2
krumm_15_ASD_discovery_cases-case12744.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
RARSP1,SMCO2
krumm_15_ASD_discovery_cases-case12857.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
RARSP1,SMCO2
krumm_15_ASD_discovery_cases-case13077.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
RARSP1,SMCO2
krumm_15_ASD_discovery_cases-case13079.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
RARSP1,SMCO2
krumm_15_ASD_discovery_cases-case13102.p1
1M-Duov3
Paternal
Simplex
Segregated
RARSP1,SMCO2
krumm_15_ASD_discovery_cases-case13346.p1
1M-Duov3
Paternal
Simplex
Segregated
RARSP1,SMCO2
krumm_15_ASD_discovery_cases-case13498.p1
1M-Duov3
Paternal
Simplex
Segregated
RARSP1,SMCO2
krumm_15_ASD_discovery_cases-case13501.p1
1M-Duov3
Maternal
Simplex
Segregated
RARSP1,SMCO2
krumm_15_ASD_discovery_cases-case13653.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
RARSP1,SMCO2
krumm_15_ASD_discovery_cases-case13657.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
RARSP1,SMCO2
krumm_15_ASD_discovery_cases-case13658.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
RARSP1,SMCO2
krumm_15_ASD_discovery_cases-case13798.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
RARSP1,SMCO2
krumm_15_ASD_discovery_cases-case13815.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
RARSP1,SMCO2
krumm_15_ASD_discovery_cases-case13870.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
RARSP1,SMCO2
krumm_15_ASD_discovery_cases-case13927.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
RARSP1,SMCO2
krumm_15_ASD_discovery_cases-case14263.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
RARSP1,SMCO2
krumm_15_ASD_discovery_cases-case14400.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
RARSP1,SMCO2
poultney_13_ASD_discovery_cases-case99HI1144B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
C12orf71,INTS13,FGFR1OP2,MED21,TM7SF3,ARNTL2,STK38L
prasad_12_ASD_discovery_cases-case168999
Unknown
Unknown
Unknown
C12orf11
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-130
Not tested by qPCR
Unknown
Unknown
Unknown
RARSP1,SMCO2,ARNTL2,ARNTL2-AS1,PPFIBP1,STK38L
shin_15_ASD/DD/ID_discovery_cases-case25
Unknown
Unknown
RARSP1,SMCO2,ARNTL2,ARNTL2-AS1,PPFIBP1,STK38L
szatmari_07_ASD_discovery_cases-NAAR047-E2-01C08482
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
ARNTL2-AS1
szatmari_07_ASD_discovery_cases-NAAR047-E5-01C08485
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
ARNTL2-AS1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_11_ASD_discovery_controls-NIMH_306
Unknown
C12orf71,RARSP1,INTS13,FGFR1OP2,MED21,SMCO2,TM7SF3,ARNTL2,ARNTL2-AS1,PPFIBP1,STK38L
girirajan_13a_ASD_discovery_controls3-control4
Unknown
RARSP1,SMCO2,ARNTL2,ARNTL2-AS1,PPFIBP1,STK38L
girirajan_13a_ASD_discovery_controls3-control5
Unknown
RARSP1,SMCO2,ARNTL2,ARNTL2-AS1,PPFIBP1,STK38L
kanduri_15_ASD_discovery_controls-control_split1760
Unknown
SMCO2
kanduri_15_ASD_discovery_controls-control_split216
Unknown
ARNTL2,SMCO2,STK38L
kanduri_15_ASD_discovery_controls-control_split549
Unknown
SMCO2
krumm_15_ASD_discovery_controls-control11077.s1
Illumina 1M
Maternal
RARSP1,SMCO2
krumm_15_ASD_discovery_controls-control11519.s1
Illumina 1M
Maternal
RARSP1,SMCO2
krumm_15_ASD_discovery_controls-control11569.s1
Illumina 1M
Paternal
RARSP1,SMCO2
krumm_15_ASD_discovery_controls-control11676.s1
Illumina 1M
Maternal
RARSP1,SMCO2
krumm_15_ASD_discovery_controls-control11979.s1
Illumina 1MDuo
Maternal
RARSP1,SMCO2
krumm_15_ASD_discovery_controls-control12233.s1
Illumina 1MDuo
Paternal
RARSP1,SMCO2
krumm_15_ASD_discovery_controls-control12399.s1
1M-Duov3
Paternal
RARSP1,SMCO2
krumm_15_ASD_discovery_controls-control12803.s1
1M-Duov3
Maternal
RARSP1,SMCO2
krumm_15_ASD_discovery_controls-control12857.s1
1M-Duov3
Paternal
RARSP1,SMCO2
krumm_15_ASD_discovery_controls-control13035.s1
Illumina 1MDuo
Maternal
RARSP1,SMCO2
krumm_15_ASD_discovery_controls-control13036.s1
Illumina 1MDuo
Maternal
RARSP1,SMCO2
krumm_15_ASD_discovery_controls-control13070.s1
Illumina 1MDuo
Paternal
RARSP1,SMCO2
krumm_15_ASD_discovery_controls-control13653.s1
Omni2.5-4v1
Paternal
RARSP1,SMCO2
krumm_15_ASD_discovery_controls-control13793.s1
Omni2.5-4v1
Maternal
RARSP1,SMCO2
krumm_15_ASD_discovery_controls-control13798.s1
Omni2.5-4v1
Maternal
RARSP1,SMCO2
krumm_15_ASD_discovery_controls-control13850.s1
Omni2.5-4v1
Paternal
RARSP1,SMCO2
krumm_15_ASD_discovery_controls-control13864.s1
Omni2.5-4v1
Paternal
RARSP1,SMCO2
krumm_15_ASD_discovery_controls-control13910.s1
Omni2.5-4v1
Paternal
RARSP1,SMCO2,ARNTL2,ARNTL2-AS1,PPFIBP1,STK38L
krumm_15_ASD_discovery_controls-control14201.s1
Omni2.5-4v1
Paternal
RARSP1,SMCO2
poultney_13_ASD_discovery_controls-control04C29259A
Unknown
RARSP1,SMCO2,ARNTL2,ARNTL2-AS1,PPFIBP1,STK38L
poultney_13_ASD_discovery_controls-control04C37906A
Unknown
RARSP1,SMCO2,ARNTL2,ARNTL2-AS1,PPFIBP1,STK38L
No Animal Model Data Available