17q11.1-q11.2CNV Type: Duplication
Largest CNV size: 491202 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Rare singleton duplication within this region was found in a case from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).
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...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
491202
0
1
1
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
751711
0
1
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
3194631
0
1
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
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
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
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
None
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
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002704
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
27627733
28118935
491203
GRCh38
Duplication
Yes
quintela_17_DD/ID_discovery_cases-caseID_586
2 yrs.
F
Developmental delay
Additional clinical information N/A
Global developmental delay
27005905
27757615
751711
GRCh38
Duplication
No
sherman_21_ASD_discovery_cases-SPARK_SP0056894
14 yrs.
M
ASD
ASD proband from the SPARK cohort. SCQ summary score: 22. Mosaic cell fraction: 0.3592. CNV occurs on the maternal haplotype.
27021741
30216371
3194631
GRCh38
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002704
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
CPDP1,RPS29P22,LGALS9,LGALS9DP,LYRM9,LINC01992,NOS2P1,NOS2,NLK
quintela_17_DD/ID_discovery_cases-caseID_586
Unknown
Unknown
VN1R71P,RPL34P31,RPS16P8,MIR4522,SYPL1P2,ITM2BP1,CPDP1,GTF2IP6,TUFMP1,WSB1,TBC1D3P5,LGALS9,LGALS9DP,KSR1,NOS2P1,NOS2
sherman_21_ASD_discovery_cases-SPARK_SP0056894
ALDOC,FLOT2,CRYBA1,SNORD42A,SNORD42B,ERAL1,SNORD4B,SNORD4A,TMEM97,GIT1,PIPOX,NLK,FAM222B,TAOK1,NUFIP2,PHF12,RAB34,NSRP1,PIGS,TP53I13,ERVE-1,CORO6,SSH2,IFT20,ABHD15,ANKRD13B,TLCD1,RSKR,SLC46A1,SEZ6,TMEM199,PROCA1,DHRS13,LYRM9,NEK8,KRT18P55,RPS7P1,EFCAB5,MYO18A,TBC1D3P5,MIR144,MIR423,TWF1P1,MIR451A,LGALS9DP,TUFMP1,NOS2P1,SEBOX,RPS16P8,RPL34P31,RPL9P30,LGALS9,NOS2,SYPL1P2,RPL21P123,RPL35AP35,RPS29P22,RPL31P58,RPS12P28,RNY4P13,VN1R71P,H3P41,ITM2BP1,MIR3184,MIR4723,MIR4522,MIR4732,SPAG5-AS1,MIR4523,MIR451B,GTF2IP6,RPL23A,ABHD15-AS1,LINC01992,SUPT6H,SDF2,VTN,SLC6A4,TNFAIP1,RNU4-34P,RNU6-711P,RNU6-1034P,RNU6-920P,CPDP1,KSR1,FOXN1,KIAA0100,SLC13A2,TRAF4,UNC119,TIAF1,SPAG5,PPY2P,POLDIP2,WSB1,SARM1,PYY2
Controls
No Control Data Available
No Animal Model Data Available