16q21-q22.1CNV Type: Deletion
Largest CNV size: 2030000 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
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
Minor Reports
Title
Author, Year
Report Class
CNV Type
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
118732
0
1
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
7236251
3
0
3
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
2030000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
0
0
0
0
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
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
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
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_cases-case14220_3530
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66531589
66650321
118733
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002305
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
64311275
68062011
3750737
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003790
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
62179331
67770414
5591084
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004454
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
63318997
70555249
7236253
GRCh38
Deletion
Yes
tzetis_12_DD/ID_discovery_cases-case42
F
DD/ID
High forehead, broad and flat nasal bridge, low-set dysmorphic ears, micrognathia, cleft soft palate, flexed fingers, hypotonia
66181439
68214602
2033164
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
engchuan_15_ASD_discovery_cases-case14220_3530
Unknown
CKLF,CMTM3,TK2,CKLF-CMTM1,CMTM1,CMTM4,CMTM2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002305
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PPIAP48,RNA5SP428,LINC00920,CKLF,CMTM3,RRAD,CIAO2B,RN7SL543P,B3GNT9,FBXL8,HSF4,KIAA0895L,EXOC3L1,E2F4,ELMO3,MIR328,TMEM208,TPPP3,RNU1-123P,AGRP,ACD,PARD6A,C16orf86,THAP11,NRN1L,PSMB10,LCAT,KARSP3,DPEP2NB,RNU6-359P,DDX28,CDH5,BEAN1-AS1,TK2,CKLF-CMTM1,CMTM1,CMTM4,DYNC1LI2,TERB1,PDP2,CDH16,CES2,CES3,CES4A,CBFB,C16orf70,TRADD,NOL3,LRRC29,PLEKHG4,KCTD19,RN7SKP118,ZDHHC1,HSD11B2,ATP6V0D1,RIPOR1,CARMIL2,ENKD1,GFOD2,TSNAXIP1,CENPT,NUTF2,EDC4,CTRL,SLC12A4,DPEP3,DPEP2,LINC02126,LINC00922,BEAN1,CMTM2,NAE1,CA7,FHOD1,SLC9A5,LRRC36,CTCF,RANBP10,PSKH1,DUS2,CDH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003790
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNU6-21P,UBE2FP2,RPS15AP34,PPIAP48,RNA5SP428,LINC00920,CKLF,CMTM3,RRAD,CIAO2B,RN7SL543P,B3GNT9,FBXL8,HSF4,KIAA0895L,EXOC3L1,E2F4,ELMO3,MIR328,TMEM208,TPPP3,RNU1-123P,AGRP,ACD,PARD6A,C16orf86,LINC02165,CDH5,BEAN1-AS1,TK2,CKLF-CMTM1,CMTM1,CMTM4,DYNC1LI2,TERB1,PDP2,CDH16,CES2,CES3,CES4A,CBFB,C16orf70,TRADD,NOL3,LRRC29,PLEKHG4,KCTD19,RN7SKP118,ZDHHC1,HSD11B2,ATP6V0D1,RIPOR1,CARMIL2,ENKD1,GFOD2,LINC02126,LINC00922,BEAN1,CMTM2,NAE1,CA7,FHOD1,SLC9A5,LRRC36,CTCF,RANBP10,CDH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004454
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPS15AP34,PPIAP48,RNA5SP428,LINC00920,CKLF,CMTM3,RRAD,CIAO2B,RN7SL543P,B3GNT9,FBXL8,HSF4,KIAA0895L,EXOC3L1,E2F4,ELMO3,MIR328,TMEM208,TPPP3,RNU1-123P,AGRP,ACD,PARD6A,C16orf86,THAP11,NRN1L,PSMB10,LCAT,KARSP3,DPEP2NB,RNU6-359P,DDX28,RPS12P27,ESRP2,MIR6773,RNU6-1262P,RNU4-30P,RPL35AP33,RNU4-36P,HSPE1P5,RNA5SP429,FTLP14,RNU6-898P,RPS2P45,RNU6-22P,PDF,NIP7,TMED6,MIR1538,MIR140,MIR1972-2,CLEC18C,EXOSC6,RN7SL279P,RPS27P26,RNU6-23P,SNORD111B,SNORD111,LINC02165,CDH5,BEAN1-AS1,TK2,CKLF-CMTM1,CMTM1,CMTM4,DYNC1LI2,TERB1,PDP2,CDH16,CES2,CES3,CES4A,CBFB,C16orf70,TRADD,NOL3,LRRC29,PLEKHG4,KCTD19,RN7SKP118,ZDHHC1,HSD11B2,ATP6V0D1,RIPOR1,CARMIL2,ENKD1,GFOD2,TSNAXIP1,CENPT,NUTF2,EDC4,CTRL,SLC12A4,DPEP3,DPEP2,PLA2G15,PRMT7,HAS3,CHTF8,VPS4A,TERF2,CYB5B,NQO1,NOB1,CLEC18A,PDXDC2P,SMG1P7,DDX19B,DDX19A,FUK,SF3B3,LINC02126,LINC00922,BEAN1,CMTM2,NAE1,CA7,FHOD1,SLC9A5,LRRC36,CTCF,RANBP10,PSKH1,DUS2,SLC7A6,SLC7A6OS,SMPD3,ZFP90,CDH3,CDH1,TANGO6,COG8,NFAT5,WWP2,PDXDC2P-NPIPB14P,NPIPB14P,PDPR,ST3GAL2,COG4,CDH11,NFATC3,UTP4,SNTB2,AARS
tzetis_12_DD/ID_discovery_cases-case42
De novo
Unknown
RNA5SP428,LINC00920,CKLF,CMTM3,RRAD,CIAO2B,RN7SL543P,B3GNT9,FBXL8,HSF4,KIAA0895L,EXOC3L1,E2F4,ELMO3,MIR328,TMEM208,TPPP3,RNU1-123P,AGRP,ACD,PARD6A,C16orf86,THAP11,NRN1L,PSMB10,LCAT,KARSP3,DPEP2NB,RNU6-359P,DDX28,RPS12P27,CDH5,BEAN1-AS1,TK2,CKLF-CMTM1,CMTM1,CMTM4,DYNC1LI2,TERB1,PDP2,CDH16,CES2,CES3,CES4A,CBFB,C16orf70,TRADD,NOL3,LRRC29,PLEKHG4,KCTD19,RN7SKP118,ZDHHC1,HSD11B2,ATP6V0D1,RIPOR1,CARMIL2,ENKD1,GFOD2,TSNAXIP1,CENPT,NUTF2,EDC4,CTRL,SLC12A4,DPEP3,DPEP2,BEAN1,CMTM2,NAE1,CA7,FHOD1,SLC9A5,LRRC36,CTCF,RANBP10,PSKH1,DUS2,NFATC3
Controls
No Control Data Available
No Animal Model Data Available