17q11.1-q12CNV Type: Duplication
Largest CNV size: 8123999 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A 17q11.1-q12 duplication of unknown origin was identified in an ASD proband from a simplex family from the ASD: Genomes to Outcome Study cohort; in addition to an ASD diagnosis, this proband presented with developmental delay and anxiety (Yuen et al., 2017).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Duplication
A large data resource of genomic copy number variation across neurodevelopmental disorders
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
8123999
0
1
1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
6145443
0
1
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
yuen_17_ASD_discovery_cases-case1-0622-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: anxiety; Developmental Delay
26935981
35059981
8124001
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0622-003
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
26980541
35065066
8084526
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
yuen_17_ASD_discovery_cases-case1-0622-003
Affymetrix CytoScan HD
Unknown
Simplex
Unknown
PDLIM1P3,VN1R71P,RPL34P31,RPS16P8,MIR4522,SYPL1P2,ITM2BP1,CPDP1,RPS29P22,PYY2,ERVE-1,PPY2P,IFT20,POLDIP2,SEBOX,VTN,SLC46A1,H3F3BP2,RPS7P1,UNC119,RAB34,SNORD42B,SNORD4A,SNORD42A,SNORD4B,TLCD1,TRAF4,RPL31P58,ERAL1,MIR451A,MIR451B,MIR144,MIR4732,TIAF1,TWF1P1,CRYBA1,RPL35AP35,RNU4-34P,MIR4523,RNU6-711P,RNU6-1034P,ABHD15,RNU6-920P,RPL21P123,RPL9P30,RNY4P13,MIR423,MIR3184,RNU6-1267P,RNU6-990P,KRT17P3,SH3GL1P2,LRRC37BP1,RN7SL316P,RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,RNA5SP437,SH3GL1P1,WDR45BP1,ARGFXP2,UBL5P2,OOSP1P2,MIR632,AA06,TLK2P1,RNA5SP438,CCL2,CCL7,CCL11,CCL8,CCL1,C17orf102,GTF2IP6,TUFMP1,WSB1,TBC1D3P5,LGALS9,LGALS9DP,LYRM9,LINC01992,TMEM97,TNFAIP1,TMEM199,MIR4723,SARM1,SLC13A2,FOXN1,PIGS,SPAG5,SPAG5-AS1,KIAA0100,SDF2,RPS12P28,SUPT6H,RPL23A,NEK8,FLOT2,DHRS13,PHF12,NUFIP2,TP53I13,GIT1,ANKRD13B,SLC6A4,TMIGD1,GOSR1,SMURF2P1,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,LRRC37B,RHBDL3,C17orf75,PSMD11,CDK5R1,TMEM98,SPACA3,LINC01989,CCL13,CCT6B,ZNF830,RFFL,RAD51L3-RFFL,KSR1,NOS2P1,NOS2,NLK,ALDOC,PROCA1,FAM222B,PIPOX,SEZ6,MYO18A,TAOK1,ABHD15-AS1,CORO6,SSH2,EFCAB5,NSRP1,BLMH,ALOX12P1,SMURF2P1-LRRC37BP1,CRLF3,ADAP2,NF1,SUZ12,RHOT1,ZNF207,LIG3,KRT18P55,CPD,RAB11FIP4,MYO1D,TMEM132E,ASIC2
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0622-003
RT-qPCR or WGS
Unknown
PDLIM1P3,VN1R71P,RPL34P31,RPS16P8,MIR4522,SYPL1P2,ITM2BP1,CPDP1,RPS29P22,PYY2,ERVE-1,PPY2P,IFT20,POLDIP2,SEBOX,VTN,SLC46A1,RPS7P1,UNC119,RSKR,RAB34,SNORD42B,SNORD4A,SNORD42A,SNORD4B,TLCD1,TRAF4,RPL31P58,ERAL1,MIR451A,MIR451B,MIR144,MIR4732,TIAF1,TWF1P1,CRYBA1,RPL35AP35,RNU4-34P,MIR4523,RNU6-711P,RNU6-1034P,ABHD15,RNU6-920P,RPL21P123,RPL9P30,RNY4P13,MIR423,MIR3184,RNU6-1267P,RNU6-990P,KRT17P3,SH3GL1P2,LRRC37BP1,RN7SL316P,RNU6-298P,RN7SL138P,DPRXP4,MIR4733,EVI2A,AK4P1,RN7SL79P,RN7SL45P,MIR4724,MIR193A,RNU6ATAC7P,MIR4725,MIR365B,RNU6-1134P,COPRS,RNA5SP437,SH3GL1P1,WDR45BP1,ARGFXP2,UBL5P2,OOSP1P2,MIR632,TLK2P1,RNA5SP438,CCL2,CCL7,CCL11,CCL8,CCL1,C17orf102,GTF2IP6,TUFMP1,WSB1,TBC1D3P5,LGALS9,LGALS9DP,LYRM9,LINC01992,TMEM97,TNFAIP1,TMEM199,MIR4723,SARM1,SLC13A2,FOXN1,PIGS,SPAG5,SPAG5-AS1,KIAA0100,SDF2,RPS12P28,SUPT6H,RPL23A,NEK8,FLOT2,DHRS13,PHF12,NUFIP2,TP53I13,GIT1,ANKRD13B,SLC6A4,TMIGD1,GOSR1,TBC1D29P,SMURF2P1,SUZ12P1,ATAD5,TEFM,RNF135,OMG,EVI2B,UTP6,LRRC37B,RHBDL3,C17orf75,PSMD11,CDK5R1,TMEM98,SPACA3,LINC01989,CCL13,CCT6B,ZNF830,RFFL,KSR1,NOS2P1,NOS2,NLK,ALDOC,PROCA1,FAM222B,PIPOX,SEZ6,MYO18A,TAOK1,ABHD15-AS1,CORO6,SSH2,EFCAB5,NSRP1,BLMH,ALOX12P1,CRLF3,ADAP2,NF1,SUZ12,RHOT1,ZNF207,LIG3,KRT18P55,CPD,RAB11FIP4,MYO1D,TMEM132E,ASIC2
null
Controls
No Control Data Available
No Animal Model Data Available