2p14CNV Type: Deletion-Duplication
Largest CNV size: 94870 bp
Statistics Box:
Number of Reports: 14
Number of Reports: 14
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
47268
2
0
2
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
50205
1
0
1
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
51501
2
0
2
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
1649519
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
1749234
0
1
1
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
7394
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
30465
0
2
2
laffin_12_CAS_discovery_cases
Participants recruited and consented for a study of pediatric motor speech disorders
24
Diagnosis of childhood apraxia of speech (CAS) assessed by Madison Speech Assessment Protocol.
Mean, 8.3 3.7 yrs.
66% Male
66812
1
0
1
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
500000
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
28771
0
1
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
1100000
1
0
1
oikonomakis_16_ASD_discovery_cases
ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
195
Cases assessed for ASD according to DSM-IV behavioral criteria
Range, 1-38 yrs.
64.61% Male
44000
1
0
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
26032
3
0
3
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
94870
8
3
11
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
206574
2
0
2
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
1649519
NA
NA
NA
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
7394
2
0
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
442344
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
0
0
0
0
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
12018
0
1
1
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)
26032
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.
99841
4
1
5
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
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
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
laffin_12_CAS_discovery_cases
NA
aCGH
Customized 385K NimbleGen array with increased coverage of genes & regions previously associated with CAS
OGT CytoSure Interpret v.3.4.3
None
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
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
oikonomakis_16_ASD_discovery_cases
Greece
aCGH
Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
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)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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
brandler_18_ASD_replication_cases-caseAU3761301
N/A
M
ASD
Case from MSSNG cohort
63885918
63933185
47268
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU3761302
N/A
F
ASD
Case from MSSNG cohort
63885918
63933185
47268
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2169_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68624271
68674476
50206
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case578-3
N/A
F
ASD
ASD; no other clinical information provided
N/A
67898118
67949619
51502
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case663-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
67903376
67951966
48591
GRCh38
Deletion
No
girirajan_12_ASD/DD/ID_discovery_cases-case47954
4 yrs. 9 mos.
F
Developmental delay
Expressive language delay, special ed preschool. Hyperactivity. Normal tone. Dysmorphic features: mild jaw asymmetry. Congenital anomalies: subglottic stenosis, possible tracheolaryngealmalacia. Other features: required G-tube feedings. Growth parameters: weight 60th %ile, height 15th %ile, OFC 50th %ile. Famiyl history: healthy mother, maternal half-sister with cleft palate and short stature (carries 2p14 duplication and 15q24.2 duplication)
Developmental delay
65418147
67067668
1649522
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002405
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
66239485
67988719
1749235
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case1935
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
64695893
64703286
7394
Unknown
Deletion
No
krumm_15_ASD_discovery_cases-case12440.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68174734
68188690
13957
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13806.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
68365351
68395816
30466
GRCh38
Duplication
Yes
laffin_12_CAS_discovery_cases-case7
7-9 yrs.
NA
CAS
Years of apraxia treatment: 7. Familial status: positive (one or more nuclear family members with a verbal trait disorder including speech disorder, language disorder, reading disorder, cognitive disability, or learning disability). Language impairment: impairments in language onset, comphrension, and expression. Motor impairment: impairments in gross motor and oral-nonverbal motor assessment tasks.
No available data
65348067
65414879
66813
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU059803
N/A
M
ASD
64957866
64985866
28001
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-12440.p1
NA
M
ASD
NA
NA
68176942
68205712
28771
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case156
6 yrs.
M
Intellectual disability
Birth history: born at 40 weeks gestation, no reported pregnancy anomalies. Developmental milestones: no motor or language delay. Language and communication evaluation: language disorder. Musculoskeletal evaluation: clinodactyly of the 4th toes, skeletal anomalies. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: no. Additional medical history: skin anomalies. Dysmorphic features: no reported dysmorphic features. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, positive for familiarity, family history positive for NDDs.
Mild intellectual disability
64456376
65562819
1106444
GRCh38
Deletion
No
oikonomakis_16_ASD_discovery_cases-case91
8 yrs.
M
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: seizures, antimogoloid palpebral fissures, low nuchal hairline, hyperactivity
68458396
68502885
44490
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case132199L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
64952309
64967222
14914
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case168219
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
64676432
64691103
14672
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-caseL656
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
68522775
68548806
26032
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11439.p1
6.8
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
70192241
70235572
43332
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11526.p1
7.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 85
68419963
68425448
5486
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11868.p1
7.9
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 91; verbal IQ, 86
68559431
68570042
10612
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11979.p1
7.5
M
ASD
NA
Full-scale IQ, 107; non-verbal IQ, 104; verbal IQ, 114
65137568
65151899
14332
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12149.p1
5.3
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 103
68584295
68596764
12470
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12279.p1
4.1
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 64; verbal IQ, 58
68853506
68866307
12802
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12378.p1
6.2
F
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 84; verbal IQ, 81
68856986
68866307
9322
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
68174425
68200884
26460
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12782.p1
13.1
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 76; verbal IQ, 77
68531048
68610887
79840
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12930.p1
12.2
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 57
68532339
68627209
94871
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13006.p1
10.5
M
Autism
NA
Full-scale IQ, 56; non-verbal IQ, 56; verbal IQ, 57
68853506
68866307
12802
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-control110036016640_
N/A
N/A
Control
No previous psychiatric history
67850575
67900950
50376
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901100_901100
N/A
N/A
Control
No previous psychiatric history
65931279
66137854
206576
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1501
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
64695893
64703286
7394
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split164
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
64695893
64703286
7394
Unknown
Deletion
No
krumm_15_ASD_discovery_controls-control13613.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
64989643
65431987
442345
GRCh38
Duplication
Yes
nord_11_ASD_discovery_controls-04C27869
Control
69094573
69106590
12018
Unknown
Duplication
sanders_11_ASD_discovery_controls-11439.s1
4.8
M
Control (matched sibling)
NA
NA
70192241
70233264
41024
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11615.s1
10.7
F
Control (matched sibling)
NA
NA
68826365
68826897
533
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11979.s1
6.3
F
Control (matched sibling)
NA
NA
65137568
65151899
14332
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11989.s1
8.1
F
Control (matched sibling)
NA
NA
68527368
68627209
99842
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12930.s1
14.8
M
Control (matched sibling)
NA
NA
68532339
68627209
94871
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-caseAU3761301
No validation step reported
Maternal
UGP2,VPS54
brandler_18_ASD_replication_cases-caseAU3761302
No validation step reported
Maternal
UGP2,VPS54
engchuan_15_ASD_discovery_cases-case2169_1
Unknown
PROKR1,APLF
gazzellone_14_ASD_discovery_cases-case578-3
Unknown
Unknown
Unknown
gazzellone_14_ASD_discovery_cases-case663-3
Unknown
Unknown
Unknown
girirajan_12_ASD/DD/ID_discovery_cases-case47954
FISH, aCGH, or confirmation by inheritance
Maternal
Multiplex for short stature and dysmorphism
Segregated for short stature and dysmorphism
RN7SL635P,VTRNA2-2P,MIR4778,MEIS1-AS3,MEIS1-AS2,LINC01628,LINC01873,LINC01797,LINC01799,SPRED2,KRT18P33,MEIS1,LINC01798
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002405
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR4778,MEIS1-AS3,MEIS1-AS2,LINC01628,LINC01873,LINC01797,LINC01799,LINC01829,ETAA1,LINC01812,MEIS1,LINC01798,LINC01828
kanduri_15_ASD_discovery_cases-case1935
De novo
Unknown
Unknown
Intergenic CNV: nearest genes, LGALSL(dist=7376),AFTPH(dist=48153)
krumm_15_ASD_discovery_cases-case12440.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
PNO1,PPP3R1
krumm_15_ASD_discovery_cases-case13806.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
PLEK
laffin_12_CAS_discovery_cases-case7
Unknown
Multiplex
Unknown
SPRED2
leppa_16_ASD_discovery_cases-AU059803
Maternal
Multiplex
Not segregated (CNV not present in affected sibling)
levy_11_ASD_discovery_cases-12440.p1
Paternal
Simplex
Segregated
PPP3R1
maini_18_ASD/DD/ID_discovery_cases-case156
De novo
Not simplex
Likely not segregated
MIR4434,RNU6-100P,LINC02579,RN7SL341P,LINC02245,RN7SL211P,RNU6-548P,RN7SL635P,VTRNA2-2P,LGALSL,AFTPH,LINC01800,LINC02576,CEP68,RAB1A,ACTR2,LINC01805,SERTAD2,SPRED2,SLC1A4
oikonomakis_16_ASD_discovery_cases-case91
Unknown
FBXO48,APLF
prasad_12_ASD_discovery_cases-case132199L
Unknown
Multiplex
Unknown
0 genes
prasad_12_ASD_discovery_cases-case168219
Unknown
Unknown
Unknown
LOC339807
prasad_12_ASD_discovery_cases-caseL656
Unknown
Unknown
Unknown
FBXO48,APLF
sanders_11_ASD_discovery_cases-11439.p1
Paternal
Simplex (quad-proband matched)
Not segregated
C2orf42,TIA1
sanders_11_ASD_discovery_cases-11526.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11868.p1
Paternal
Simplex (quad-proband matched)
Not segregated
APLF
sanders_11_ASD_discovery_cases-11979.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12149.p1
Unknown
Simplex (trio)
NA
APLF
sanders_11_ASD_discovery_cases-12279.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
BMP10
sanders_11_ASD_discovery_cases-12378.p1
Unknown
Simplex (quad-proband matched)
Not segregated
BMP10
sanders_11_ASD_discovery_cases-12440.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PNO1,PPP3R1
sanders_11_ASD_discovery_cases-12782.p1
Unknown
Simplex (quad-proband matched)
Not segregated
APLF
sanders_11_ASD_discovery_cases-12930.p1
Unknown
Simplex (quad-proband matched)
Not segregated
APLF
sanders_11_ASD_discovery_cases-13006.p1
Maternal
Simplex (quad-proband matched)
Not segregated
BMP10
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036016640_
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901100_901100
Unknown
kanduri_15_ASD_discovery_controls-control_split1501
Unknown
Intergenic CNV: nearest genes, LGALSL(dist=7376),AFTPH(dist=48153)
kanduri_15_ASD_discovery_controls-control_split164
Unknown
Intergenic CNV: nearest genes, LGALSL(dist=7376),AFTPH(dist=48153)
krumm_15_ASD_discovery_controls-control13613.s1
Omni2.5-4v1
Paternal
RNU6-548P,LINC02576,CEP68,RAB1A,ACTR2,SPRED2,SLC1A4
nord_11_ASD_discovery_controls-04C27869
ANTXR1
sanders_11_ASD_discovery_controls-11439.s1
Paternal
Simplex (quad)
NA
C2orf42,TIA1
sanders_11_ASD_discovery_controls-11615.s1
Unknown
Simplex (quad)
NA
ARHGAP25
sanders_11_ASD_discovery_controls-11979.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11989.s1
Unknown
Simplex (quad)
NA
APLF
sanders_11_ASD_discovery_controls-12930.s1
Unknown
Simplex (quad)
NA
APLF
No Animal Model Data Available