16q12.1CNV Type: Deletion-Duplication
Largest CNV size: 114203 bp
Statistics Box:
Number of Reports: 10
Number of Reports: 10
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
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
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion-Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
439
1
1
2
egger_14_ASD_discovery_cases
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
607296
0
1
1
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
146550
1
0
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
4063782
2
0
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
181761
2
0
2
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
55307
0
1
1
reinthaler_14_EP_discovery_cases
Epilepsy patients recruited as part of a multi-center effort from Austria, Germany, Australia, and Canada; 98 patients from multiplex families (at least two affected siblings)
281
Cases diagnosed with rolandic epilepsy according to International Classification of Seizures and Epilepsies; 230 cases with rolandic epilepsy, 51 cases with atypical rolandic epilepsy.
N/A
58.72% Male
580000
0
1
1
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
435606
1
0
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
102631
1
0
1
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
114203
10
0
10
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
egger_14_ASD_discovery_controls
CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
2357
Control
N/A
N/A
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
75652
2
0
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
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
181761
1
0
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
215406
1
0
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)
55307
0
0
0
reinthaler_14_EP_discovery_controls
Unscreened population controls
1512
Control
N/A
49.93% Male
580000
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.
216525
7
0
7
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
qPCR
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
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)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
reinthaler_14_EP_discovery_cases
Caucasian
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
None
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
egger_14_ASD_discovery_controls
European
N/A
N/A
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
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
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
reinthaler_14_EP_discovery_controls
German
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
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
celestino-soper_11_ASD_discovery_cases-11303
NA
M
ASD
NA
NA
50716490
50716678
189
GRCh38
Duplication
No
celestino-soper_11_ASD_discovery_cases-11399
NA
M
ASD
NA
NA
50368335
50368774
440
GRCh38
Deletion
No
egger_14_ASD_discovery_cases-caseA67
16 yrs. (born 1998)
F
ASD
Diagnosis: early infantile autism/high functioning autism. Co-morbidities/additional features: speech present; obesity (BMI 28.7). Family history: none reported. CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
Cognitive impairment (IQ 60-80)
49320300
49927595
607296
GRCh38
Duplication
Yes
iourov_12_ASD/ID/EP_discovery_cases-case19
2 yrs. 7 mos.
NA
Intellectual disability
Speech delay, autistic features, kidney malformation
Intellectual disability
47289457
47436007
146551
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001157
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
49740807
51876620
2135814
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005000
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
48156593
52220374
4063782
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13514.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
47497398
47547548
50151
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13777.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
47365787
47547548
181762
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case51253
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
46669401
46724707
55307
Unknown
Duplication
No
reinthaler_14_EP_discovery_cases-caseGGRE11
N/A
M
Epilepsy
Epilepsy phenotype: rolandic epilepsy.
48855266
49435223
579958
GRCh38
Duplication
No
rosenfeld_10_ASD_discovery_cases-case3183
NA
NA
ASD
NA
NA
46666094
47101700
435606
Unknown
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-051
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
49693663
49796293
102631
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11664.p1
7.3
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 44; verbal IQ, 43
48140648
48146171
5524
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11704.p1
9.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
47767179
47862164
94986
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11781.p1
7
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 86; verbal IQ, 88
48140648
48149388
8741
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11901.p1
10.3
M
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 33; verbal IQ, 27
47753307
47862164
108858
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11924.p1
7.6
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 105; verbal IQ, 74
48140648
48146072
5425
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12266.p1
5.7
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
47744421
47858624
114204
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12417.p1
4.4
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 96; verbal IQ, 83
47785311
47862164
76854
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12656.p1
10.9
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 46; verbal IQ, 29
52352544
52358571
6028
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12984.p1
10.1
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 102; verbal IQ, 96
48139470
48167521
28052
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13015.p1
5.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
48139470
48146480
7011
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-control110036001121_
N/A
N/A
Control
No previous psychiatric history
47489386
47565038
75653
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900073_900073
N/A
N/A
Control
No previous psychiatric history
47234088
47282462
48375
GRCh38
Deletion
No
krumm_15_ASD_discovery_controls-control11073.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
47365787
47547548
181762
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11073.s1
NA
F
Control
NA
NA
47332380
47547785
215406
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11073.s1
7.8
F
Control (matched sibling)
NA
NA
47333233
47549758
216526
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12327.s1
16.3
F
Control (matched sibling)
NA
NA
47720655
47858624
137970
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12358.s1
6.7
M
Control (matched sibling)
NA
NA
47785311
47895177
109867
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12444.s1
7
M
Control (matched sibling)
NA
NA
50165673
50194075
28403
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12518.s1
4.7
F
Control (matched sibling)
NA
NA
47767179
47908631
141453
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12759.s1
5.8
F
Control (matched sibling)
NA
NA
51388343
51391688
3346
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12964.s1
8.5
M
Control (matched sibling)
NA
NA
48139470
48146199
6730
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
celestino-soper_11_ASD_discovery_cases-11303
Unknown
Simplex
NA
NOD2
celestino-soper_11_ASD_discovery_cases-11399
Unknown
Simplex
NA
BRD7
egger_14_ASD_discovery_cases-caseA67
qPCR
Maternal
Unknown
LINC02179,ADAM3B,MRPS21P7,MRPS21P8,C16orf78,ZNF423
iourov_12_ASD/ID/EP_discovery_cases-case19
Unknown
Unknown
Unknown
ITFG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001157
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MRPS21P8,RPL34P29,ACTG1P16,RNY4P3,MIR6771,LINC02178,MIR3181,RNA5SP426,SOD1P2,UNGP1,RN7SKP142,LINC01571,CNEP1R1,RPL10P14,ADCY7,SNX20,CYLD,LINC02168,LINC02127,SALL1,ZNF423,HEATR3,TENT4B,NKD1,NOD2,LINC02128,HNRNPA1P48,BRD7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005000
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
UBA52P8,MOCS1P1,RPS2P44,KLF8P1,RNU6-257P,MTND4LP25,CBLN1,LINC02179,ADAM3B,MRPS21P7,MRPS21P8,RPL34P29,ACTG1P16,RNY4P3,MIR6771,LINC02178,MIR3181,RNA5SP426,SOD1P2,UNGP1,RN7SKP142,LINC01571,LINC02180,LONP2,N4BP1,C16orf78,CNEP1R1,RPL10P14,ADCY7,SNX20,CYLD,LINC02168,LINC02127,SALL1,LINC00919,SIAH1,ZNF423,HEATR3,TENT4B,NKD1,NOD2,LINC02128,HNRNPA1P48,C16orf97,ABCC11,BRD7
krumm_15_ASD_discovery_cases-case13514.p1
1M-Duov3
Paternal
Simplex
Segregated
RNA5SP425,PHKB
krumm_15_ASD_discovery_cases-case13777.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
RNA5SP425,PHKB,ITFG1
prasad_12_ASD_discovery_cases-case51253
Unknown
Unknown
Unknown
ABCC12
reinthaler_14_EP_discovery_cases-caseGGRE11
Unknown
Unknown
Unknown
MTND4LP25,CBLN1,C16orf78
rosenfeld_10_ASD_discovery_cases-case3183
FISH
Unknown
Unknown
Unknown
ABCC12,ABCC11,LONP2,SIAH1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-051
qPCR
Maternal
Unknown
Unknown
MRPS21P7,MRPS21P8,ZNF423
sanders_11_ASD_discovery_cases-11664.p1
Unknown
Simplex (trio)
NA
ABCC12
sanders_11_ASD_discovery_cases-11704.p1
Unknown
Simplex (trio)
NA
LINC02192,LINC02133
sanders_11_ASD_discovery_cases-11781.p1
Unknown
Simplex (trio)
NA
ABCC12
sanders_11_ASD_discovery_cases-11901.p1
Unknown
Simplex (quad-proband matched)
Segregated
LINC02192,LINC02133
sanders_11_ASD_discovery_cases-11924.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ABCC12
sanders_11_ASD_discovery_cases-12266.p1
Unknown
Simplex (trio)
NA
LINC02192,LINC02133
sanders_11_ASD_discovery_cases-12417.p1
Unknown
Simplex (trio)
NA
LINC02192,LINC02133
sanders_11_ASD_discovery_cases-12656.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12984.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ABCC12,ABCC11
sanders_11_ASD_discovery_cases-13015.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ABCC12
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036001121_
Unknown
RNA5SP425,PHKB
engchuan_15_ASD_discovery_controls-controlHABC_900073_900073
Unknown
ITFG1
krumm_15_ASD_discovery_controls-control11073.s1
Illumina 1M
Paternal
RNA5SP425,PHKB,ITFG1
levy_11_ASD_discovery_controls-11073.s1
Paternal
Simplex
NA
RNA5SP425,PHKB,ITFG1
sanders_11_ASD_discovery_controls-11073.s1
Paternal
Simplex (quad)
NA
RNA5SP425,PHKB,ITFG1
sanders_11_ASD_discovery_controls-12327.s1
Unknown
Simplex (quad)
NA
LINC02192,LINC02133
sanders_11_ASD_discovery_controls-12358.s1
Unknown
Simplex (quad)
NA
LINC02192,LINC02133
sanders_11_ASD_discovery_controls-12444.s1
Paternal
Simplex (quad)
NA
TENT4B
sanders_11_ASD_discovery_controls-12518.s1
Unknown
Simplex (quad)
NA
LINC02192,LINC02133
sanders_11_ASD_discovery_controls-12759.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12964.s1
Maternal
Simplex (quad)
NA
ABCC12
No Animal Model Data Available