17q11.2-q12CNV Type: Deletion
Largest CNV size: 61585 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
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
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
61585
1
0
1
sherman_21_ASD_discovery_cases
ASD probands from the Simons Simplex Collection (n=2,594) and the SPARK cohort (n=9,483) screened for mosaic CNVs (mCNVs)
12077
Cohort diagnosis of ASD
Range, 3-40+ yrs.
NA
4647942
1
0
1
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.
0
0
0
0
sherman_21_ASD_discovery_controls
Unaffected siblings of ASD probands from the Simons Simplex Collection (n=2,424) and the SPARK cohort (n=3,076) screened for mosaic CNVs (mCNVs)
5500
Control (unaffected siblings of ASD probands)
Range, 3-18 yrs.
NA
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
sherman_21_ASD_discovery_cases
NA
Solid phase hybridization
Illumina 1Mv1, Illumina 1Mv3, Illumina Omni2.5, Illumina Infinium Global Screening Array-24 v.1.0
MoChA
None
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
sherman_21_ASD_discovery_controls
NA
Solid phase hybridization
Illumina 1Mv1, Illumina 1Mv3, Illumina Omni2.5, Illumina Infinium Global Screening Array-24 v.1.0
MoChA
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
sanders_11_ASD_discovery_cases-12962.p1
11.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 82; verbal IQ, 78
33401716
33463301
61586
GRCh38
Deletion
No
sherman_21_ASD_discovery_cases-SPARK_SP0095456
8 yrs.
M
ASD
ASD proband from the SPARK cohort. SCQ summary score: 14. Mosaic cell fraction: 0.518737964745964. CNV occurs on the maternal haplotype.
30433160
35081101
4647942
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_cases-12962.p1
Paternal
Simplex (quad-proband matched)
Segregated
ASIC2
sherman_21_ASD_discovery_cases-SPARK_SP0095456
AK4P1,ASIC2,ALOX12P1,CPD,EVI2A,EVI2B,CRLF3,RHOT1,COPRS,ADAP2,UTP6,C17orf75,TEFM,ATAD5,RAB11FIP4,RNF135,ZNF830,RFFL,SPACA3,LRRC37B,TMEM132E,LRRC37BP1,RHBDL3,MIR193A,SUZ12P1,ARGFXP2,DPRXP4,TLK2P1,WDR45BP1,MIR632,KRT17P3,MIR365B,NF1,OMG,LIG3,MYO1D,UBL5P2,GPR160P2,MIR4733,MIR4724,MIR4725,RNA5SP437,RNA5SP438,LINC01989,PSMD11,RN7SL316P,SH3GL1P2,SH3GL1P1,CCL11,CCL13,CCL7,CCL8,CCL2,CCL1,RNU6-1134P,OOSP1P2,RNU6ATAC7P,RN7SL79P,RNU6-298P,RN7SL138P,RN7SL45P,SMURF2P1,ZNF207,CDK5R1,GOSR1,CCT6B,SUZ12,TBC1D29P,TMEM98
Controls
No Control Data Available
No Animal Model Data Available