16q22.1-q22.3CNV Type: Duplication
Largest CNV size: 1486370 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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
1486370
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
4044350
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
5654259
1
0
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
2952841
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
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)
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_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
gai_11_ASD_discovery_cases-AU1551302
Autism
68486638
69973007
1486370
Unknown
Duplication
No
girirajan_13a_ASD_discovery_cases-12691.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
70267752
74312107
4044356
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001827
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
68698941
74353205
5654265
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case12691.p1
N/A
F
ASD
ASD proband from SSC quad family 12691. SRS score of 73.
Full-scale IQ (FSIQ) score of 34.
69937117
72889962
2952846
GRCh38
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
gai_11_ASD_discovery_cases-AU1551302
Inherited
WWP2, CLEC18A, PDXDC2, PDPR, CLEC18C, EXOSC6, AARS, DDX19B, DDX19A, ST3GAL2, FUK, COG4, SF3B3, SNORD111B, SNORD111, IL34, MTSS1L, VAC14, HYDIN, FTSJD1, CALB2
girirajan_13a_ASD_discovery_cases-12691.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
RN7SL279P,RPS27P26,RNU6-23P,SNORD111B,SNORD111,RNU6ATAC25P,RNU6-1061P,TAT,TAT-AS1,RNU6-208P,SNORA70D,SNORD71,ATP5F1AP3,RNU7-90P,KRT18P18,RNU7-71P,HCCAT5,PPIAP49,DDX19B,DDX19A,FUK,SF3B3,MTSS1L,VAC14-AS1,CMTR2,CALB2,LINC02136,ZNF23,ZNF19,CHST4,MARVELD3,AP1G1,ATXN1L,IST1,ZNF821,RPL39P31,DHODH,HP,HPR,DHX38,PMFBP1,PSMD7,ST3GAL2,COG4,IL34,VAC14,HYDIN,TLE7,PHLPP2,PKD1L3,TXNL4B,AARS,LINC01572,ZFHX3,LINC01568
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001827
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNA5SP429,FTLP14,RNU6-898P,RPS2P45,RNU6-22P,PDF,NIP7,TMED6,MIR1538,MIR140,MIR1972-2,CLEC18C,EXOSC6,RN7SL279P,RPS27P26,RNU6-23P,SNORD111B,SNORD111,RNU6ATAC25P,RNU6-1061P,TAT,TAT-AS1,RNU6-208P,SNORA70D,SNORD71,ATP5F1AP3,RNU7-90P,KRT18P18,RNU7-71P,HCCAT5,PPIAP49,HAS3,CHTF8,VPS4A,TERF2,CYB5B,NQO1,NOB1,CLEC18A,PDXDC2P,SMG1P7,DDX19B,DDX19A,FUK,SF3B3,MTSS1L,VAC14-AS1,CMTR2,CALB2,LINC02136,ZNF23,ZNF19,CHST4,MARVELD3,AP1G1,ATXN1L,IST1,ZNF821,RPL39P31,DHODH,HP,HPR,DHX38,PMFBP1,PSMD7,CDH3,CDH1,TANGO6,COG8,NFAT5,WWP2,PDXDC2P-NPIPB14P,NPIPB14P,PDPR,ST3GAL2,COG4,IL34,VAC14,HYDIN,TLE7,PHLPP2,PKD1L3,TXNL4B,UTP4,SNTB2,AARS,LINC01572,ZFHX3,LINC01568
krumm_13_ASD_discovery_cases-case12691.p1
Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
De novo
Simplex
Segregated
MIR1972-2,CLEC18C,EXOSC6,RN7SL279P,RPS27P26,RNU6-23P,SNORD111B,SNORD111,RNU6ATAC25P,RNU6-1061P,TAT,TAT-AS1,RNU6-208P,SNORA70D,SNORD71,ATP5F1AP3,RNU7-90P,KRT18P18,RNU7-71P,CLEC18A,PDXDC2P,SMG1P7,DDX19B,DDX19A,FUK,SF3B3,MTSS1L,VAC14-AS1,CMTR2,CALB2,LINC02136,ZNF23,ZNF19,CHST4,MARVELD3,AP1G1,ATXN1L,IST1,ZNF821,RPL39P31,DHODH,HP,HPR,DHX38,PMFBP1,WWP2,PDXDC2P-NPIPB14P,NPIPB14P,PDPR,ST3GAL2,COG4,IL34,VAC14,HYDIN,TLE7,PHLPP2,PKD1L3,TXNL4B,AARS,LINC01572,ZFHX3
Controls
No Control Data Available
No Animal Model Data Available