12q24.23CNV Type: Deletion-Duplication
Largest CNV size: 169900 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
The clinical significance of small copy number variants in neurodevelopmental disorders.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
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
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
asadollahi_14_NDD_discovery_cases
Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
714
Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
N/A
N/A
122000
0
1
1
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
5035
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
119077
0
1
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
640739
0
3
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
169900
7
1
8
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
5035
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
70479
4
0
4
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
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)
390111
0
3
3
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
11664
7
0
7
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
asadollahi_14_NDD_discovery_cases
Predominantly European
Array SNP
Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
HMM
Affymetrix ChAS v.1.0.1
MLPA
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
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
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
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
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
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
asadollahi_14_NDD_discovery_cases-case62848
5 yrs.
F
Developmental delay
Developmental delay, hyperactivity, microcephaly. Pathogenic heterozygous SHANK2 variant (c.2514_2515insG; p.P841SfsX32) found in patient by WES.
118139627
118261665
122039
GRCh38
Duplication
Yes
brandler_18_ASD_discovery_cases-caseSSC00851
N/A
M
ASD
Case from SSC_phase1 cohort
118355602
118360637
5036
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12761.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
118019071
118138148
119078
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case03HI2580A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0924301; NDAR ID NDAR_INVCE056PE7)
119757369
119776844
19476
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0694B
N/A
F
ASD
ASD case from AGRE (AGRE ID AU038203; NDAR ID NDAR_INVXX733FLA)
119488757
120129496
640740
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1144B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU020404; NDAR ID NDAR_INVPN168CVH)
119822818
119869203
46386
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11004.p1
15.8
M
ASD
NA
Full-scale IQ, 59; non-verbal IQ, 74; verbal IQ, 31
118938449
118950113
11665
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11108.p1
8.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 114; verbal IQ, 85
119551148
119554507
3360
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11207.p1
14.8
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 91; verbal IQ, 70
119549249
119554507
5259
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11356.p1
11.5
F
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 72; verbal IQ, 77
119551148
119554507
3360
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11468.p1
10.7
M
Aspergers
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 87
119551148
119554507
3360
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12007.p1
8.7
F
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 54; verbal IQ, 83
119094589
119099598
5010
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12761.p1
5.4
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 109; verbal IQ, 89
117975679
118145579
169901
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13244.p1
15.7
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 74; verbal IQ, 63
119094589
119099598
5010
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
brandler_18_ASD_discovery_controls-controlSSC00862
N/A
F
Control
Control from SSC_phase1 cohort
118355602
118360637
5036
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-controlB100331_1007873991
N/A
N/A
Control
No previous psychiatric history
118520803
118591282
70480
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB303773_1007874624
N/A
N/A
Control
No previous psychiatric history
118520803
118591282
70480
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900020_900020
N/A
N/A
Control
No previous psychiatric history
118520803
118581338
60536
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902460_902460
N/A
N/A
Control
No previous psychiatric history
118520803
118581338
60536
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C44621
N/A
M
Control
NIMH Control (NIMH ID 39000)
119479092
119869203
390112
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C44621
N/A
M
Control
NIMH Control (NIMH ID 39000)
120138321
120198741
60421
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C44954
N/A
F
Control
NIMH Control (NIMH ID 12344)
118019070
118022361
3292
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11004.s1
10.3
M
Control (matched sibling)
NA
NA
118938449
118950113
11665
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11300.s1
8
M
Control (matched sibling)
NA
NA
119551148
119554507
3360
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11356.s1
9.3
M
Control (matched sibling)
NA
NA
119551148
119554507
3360
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11505.s1
9.9
F
Control (matched sibling)
NA
NA
119551148
119554507
3360
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11552.s1
6
F
Control (matched sibling)
NA
NA
119551148
119554507
3360
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11573.s1
10.3
F
Control (matched sibling)
NA
NA
119551148
119554507
3360
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12361.s1
7.3
M
Control (matched sibling)
NA
NA
119094589
119099598
5010
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
asadollahi_14_NDD_discovery_cases-case62848
MLPA
De novo
Unknown
Unknown
RPS2P5,PEBP1,TAOK3
brandler_18_ASD_discovery_cases-caseSSC00851
PCR or SNP data validation
Maternal
TAOK3
krumm_15_ASD_discovery_cases-case12761.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
RFC5,WSB2,PEBP1,VSIG10
poultney_13_ASD_discovery_cases-case03HI2580A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CIT
poultney_13_ASD_discovery_cases-case99HI0694B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RN7SKP197,MIR1178,RPL35AP30,TMEM233,RAB35,PRKAB1,CIT,BICDL1,GCN1,CCDC60
poultney_13_ASD_discovery_cases-case99HI1144B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CIT
sanders_11_ASD_discovery_cases-11004.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11108.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11207.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11356.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11468.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12007.p1
Unknown
Simplex (quad-proband matched)
Segregated
SRRM4
sanders_11_ASD_discovery_cases-12761.p1
Maternal
Simplex (trio)
NA
RFC5,WSB2,PEBP1,VSIG10
sanders_11_ASD_discovery_cases-13244.p1
Paternal
Simplex (trio)
NA
SRRM4
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC00862
PCR or SNP data validation
Maternal
TAOK3
engchuan_15_ASD_discovery_controls-controlB100331_1007873991
Unknown
engchuan_15_ASD_discovery_controls-controlB303773_1007874624
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900020_900020
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902460_902460
Unknown
poultney_13_ASD_discovery_controls-control05C44621
Unknown
RN7SKP197,MIR1178,TMEM233,PRKAB1,CIT,CCDC60
poultney_13_ASD_discovery_controls-control05C44621
Unknown
MIR4498,RPLP0,GCN1
poultney_13_ASD_discovery_controls-control05C44954
Unknown
RFC5
sanders_11_ASD_discovery_controls-11004.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11300.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11356.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11505.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11552.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11573.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12361.s1
Unknown
Simplex (quad)
NA
SRRM4
No Animal Model Data Available