16p13.2-p13.13CNV Type: Deletion
Largest CNV size: 1300000 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
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
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
battaglia_13_DD/ID/ASD_discovery_cases
Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
349
34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
Range, 5 mos.-19 yrs.
63.9% Male
1300000
1
0
1
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
422223
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
428587
0
1
1
miclea_22_DD/ID_discovery_cases
Patients presented in Clinical Emergency Hospital for Children Cluj-Napoca betwwen January 2015 and July 2017.
189
Diagnosis of global developmental delay (DD) or intellectual disability (ID) based on intelligence quotient evaluated by WISC-IV and developmental quotient evaluated by NEPSY.
Range, 1-18 yrs.
51.85% Male
3800585
0
1
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
14998
4
0
4
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
28635
3
0
3
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
qPCR
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)
miclea_22_DD/ID_discovery_cases
Romania
Solid phase hybridization
Illumina Infinium OmniExpress-24 BeadChip
NA
Illumina GenomeStudio v.2.0.
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
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
battaglia_13_DD/ID/ASD_discovery_cases-case54
12 yrs.
M
Developmental delay/intellectual disability and epilepsy
Autism: no. Epilepsy: yes. Dysmorphic features: yes.
Mild-moderate DD/ID
9669003
10932225
1263223
GRCh38
Deletion
Yes
gai_11_ASD_replication_cases-AU063004
Autism
9978396
10400618
422223
Unknown
Duplication
Yes
girirajan_13a_ASD_discovery_cases-AU063004
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
9997991
10426578
428588
GRCh38
Duplication
Yes
miclea_22_DD/ID_discovery_cases-case6
11 yrs.
M
ASD, developmental delay, and intellectual disability
Global developmental delay, autism spectrum disorder (ASD), epilepsy, obesity
Intellectual disability
8176772
11977356
3800585
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11189.p1
14.5
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 77; verbal IQ, 37
10295555
10310553
14999
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12187.p1
7.8
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 110; verbal IQ, 105
10295555
10310553
14999
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12208.p1
7.4
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 118; verbal IQ, 89
10295555
10310553
14999
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13048.p1
12.9
F
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26
10295555
10310553
14999
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
sanders_11_ASD_discovery_controls-11189.s1
12.2
F
Control (matched sibling)
NA
NA
10295555
10310553
14999
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12187.s1
10.2
F
Control (matched sibling)
NA
NA
10295555
10310553
14999
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13048.s1
15.6
F
Control (matched sibling)
NA
NA
10281918
10310553
28636
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
battaglia_13_DD/ID/ASD_discovery_cases-case54
FISH or qPCR
Paternal
Paternal
Possible multi-generational
Segregated
IMPDH1P11,RN7SL493P,RNU6-633P,MTCYBP33,MTND6P33,MTND5P33,MTND4P34,MTND4LP24,MTND3P13,MTCO3P24,MTATP6P24,DEXI,LINC01290,EMP2,TEKT5,TVP23A,GRIN2A,ATF7IP2,NUBP1,CIITA
gai_11_ASD_replication_cases-AU063004
qPCR
Inherited
GRIN2A
girirajan_13a_ASD_discovery_cases-AU063004
aCGH (NimbleGen 135K array)
Maternal
Multiplex
Unknown
IMPDH1P11,RN7SL493P,GRIN2A,ATF7IP2
miclea_22_DD/ID_discovery_cases-case6
Unknown
TNFRSF17,ABAT,EMP2,C16orf72,TXNDC11,ZC3H7A,DEXI,PRM3,METTL22,ATF7IP2,SNX29,RMI2,TEKT5,GSPT1,GRIN2A,TMEM114,BCAR4,RPL7P46,IMPDH1P11,RPL21P119,NPIPB2,TVP23A,NUBP1,CIITA,RNU7-63P,MIR548H2,HNRNPCP4,RNA5SP404,LINC02177,PRM2,PMM2,PRM1,LITAFD,LINC01177,LINC01195,USP7-AS1,LINC02152,RSL1D1-DT,RN7SL493P,LINC01290,RNA5SP403,TNP2,RN7SL743P,UBL5P4,RNU6-633P,MTND3P13,MTATP6P24,MTND4LP24,MTCO3P24,MTND5P33,MTND6P33,MTND4P34,MTCYBP33,SOCS1,SNN,USP7,CARHSP1-DT,LITAF,COX6CP1,CARHSP1,RSL1D1,CLEC16A,TMEM186
sanders_11_ASD_discovery_cases-11189.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12187.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12208.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13048.p1
Both parents
Simplex (quad-proband matched)
Not segregated
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-11189.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12187.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13048.s1
Both parents
Simplex (quad)
NA
No Animal Model Data Available