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22q11.1-q11.21CNV Type: Duplication


Largest CNV size: 78000 bp

Statistics Box:
Number of Reports: 5



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

Decipher Symbol                         Decipher Symbol

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-Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Duplication
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Duplication
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
 Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013
 584
 Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype
 N/A
 N/A
 1714468
 1
 0
 1
 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
 
 
 222487
 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
 4057919
 2
 6
 8
 morrow_08_ASD_discovery_cases
 Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
 94
 ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
 
 
 78000
 0
 1
 1
 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)
 
 1600000
 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

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
  Saudi Arabia
 Array SNP
  Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
 HMM
 Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 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
 morrow_08_ASD_discovery_cases
  Arabic Middle East, Turkey, and Pakistan
 Array SNP
  Affymetrix 500K
 BRLMM
 dChip
 
 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
  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
  al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG0448
 N/A
 N/A
 Developmental delay
 Global developmental delay with dysmorphic features, dental hypoplasia and mild right-sided facial asymmetry, hypotonia, joint hypermobility, short stature and bilateral talipes equinovarus (Velocardiofacial Syndrome). Consanguineous parents.
 Global developmental delay
 16889237
 19097081
  2207845
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1482302
 
 
 Autism
 
 
 16080284
 16302770
  222487
 Unknown
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000169
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 16916608
 21151128
  4234521
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000862
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 16916608
 20324240
  3407633
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001633
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 16538125
 20363937
  3825813
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001922
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 16367190
 18167952
  1800763
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002752
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 16578056
 18134332
  1556277
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003935
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 16916608
 20345217
  3428610
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005081
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 16414871
 18167952
  1753082
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005348
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 16916608
 20324240
  3407633
 GRCh38
 Deletion
 Yes
  morrow_08_ASD_discovery_cases-case5301
 NA
 
 ASD
 NA
 NA
 16219000
 16297000
  78000
 Unknown
 Duplication
 No
  tzetis_12_DD/ID_discovery_cases-case60
 
 F
 DD/ID
 Typical CAT-EYE syndrome
 
 16578056
 18179006
  1600951
 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
 al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG0448
 
 
 Unknown
 Unknown
 Unknown
 IGKV1OR22-5,IGKV2OR22-4,IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,VN1R9P,LINC01664,HDHD5-AS1,FAM32BP,CECR3,CECR9,RN7SL843P,CLCP1,DNAJA1P6,MIR3198-1,LINC00528,MIR648,RHEBP3,LINC01634,ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,GAB4,IL17RA,TMEM121B,HDHD5,ADA2,ATP6V1E1,BID,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,CECR7,CECR2,SLC25A18,BCL2L13,PEX26,FAM230A,DGCR9,MICAL3
 
 gai_11_ASD_discovery_cases-AU1482302
 
 
 Inherited
 
 
 CECR1, CECR2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000169
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,VN1R9P,LINC01664,HDHD5-AS1,FAM32BP,CECR3,CECR9,RN7SL843P,CLCP1,DNAJA1P6,MIR3198-1,LINC00528,MIR648,RHEBP3,LINC01634,ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,GAB4,IL17RA,TMEM121B,HDHD5,ADA2,ATP6V1E1,BID,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,CECR7,CECR2,SLC25A18,BCL2L13,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,MICAL3,TXNRD2,AIFM3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000862
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,VN1R9P,LINC01664,HDHD5-AS1,FAM32BP,CECR3,CECR9,RN7SL843P,CLCP1,DNAJA1P6,MIR3198-1,LINC00528,MIR648,RHEBP3,LINC01634,ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,GAB4,IL17RA,TMEM121B,HDHD5,ADA2,ATP6V1E1,BID,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,CECR7,CECR2,SLC25A18,BCL2L13,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,MICAL3,TXNRD2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001633
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 CCT8L2,FABP5P11,PARP4P3,LINC01665,HSFY1P1,GPM6BP3,MTND1P17,IGKV1OR22-5,IGKV2OR22-4,IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,VN1R9P,LINC01664,HDHD5-AS1,FAM32BP,CECR3,CECR9,RN7SL843P,CLCP1,DNAJA1P6,MIR3198-1,LINC00528,MIR648,RHEBP3,LINC01634,ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,ZNF402P,GAB4,IL17RA,TMEM121B,HDHD5,ADA2,ATP6V1E1,BID,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,TPTEP1,SLC25A15P5,CECR7,CECR2,SLC25A18,BCL2L13,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,MICAL3,TXNRD2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001922
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 ABCD1P4,PABPC1P9,CHEK2P4,CCT8L2,FABP5P11,PARP4P3,LINC01665,HSFY1P1,GPM6BP3,MTND1P17,IGKV1OR22-5,IGKV2OR22-4,IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,VN1R9P,LINC01664,HDHD5-AS1,FAM32BP,CECR3,CECR9,RN7SL843P,CLCP1,DNAJA1P6,MIR3198-1,LINC00528,MIR648,RHEBP3,LINC01634,ARL2BPP10,SLC9B1P4,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,ZNF402P,GAB4,IL17RA,TMEM121B,HDHD5,ADA2,ATP6V1E1,BID,TUBA8,USP18,TPTEP1,SLC25A15P5,CECR7,CECR2,SLC25A18,BCL2L13,PEX26,MICAL3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002752
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 CCT8L2,FABP5P11,PARP4P3,LINC01665,HSFY1P1,GPM6BP3,MTND1P17,IGKV1OR22-5,IGKV2OR22-4,IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,VN1R9P,LINC01664,HDHD5-AS1,FAM32BP,CECR3,CECR9,RN7SL843P,CLCP1,DNAJA1P6,MIR3198-1,LINC00528,MIR648,RHEBP3,LINC01634,ARL2BPP10,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,ZNF402P,GAB4,IL17RA,TMEM121B,HDHD5,ADA2,ATP6V1E1,BID,TUBA8,TPTEP1,SLC25A15P5,CECR7,CECR2,SLC25A18,BCL2L13,PEX26,MICAL3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003935
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,VN1R9P,LINC01664,HDHD5-AS1,FAM32BP,CECR3,CECR9,RN7SL843P,CLCP1,DNAJA1P6,MIR3198-1,LINC00528,MIR648,RHEBP3,LINC01634,ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,GAB4,IL17RA,TMEM121B,HDHD5,ADA2,ATP6V1E1,BID,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,CECR7,CECR2,SLC25A18,BCL2L13,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,MICAL3,TXNRD2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005081
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 PABPC1P9,CHEK2P4,CCT8L2,FABP5P11,PARP4P3,LINC01665,HSFY1P1,GPM6BP3,MTND1P17,IGKV1OR22-5,IGKV2OR22-4,IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,VN1R9P,LINC01664,HDHD5-AS1,FAM32BP,CECR3,CECR9,RN7SL843P,CLCP1,DNAJA1P6,MIR3198-1,LINC00528,MIR648,RHEBP3,LINC01634,ARL2BPP10,SLC9B1P4,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,ZNF402P,GAB4,IL17RA,TMEM121B,HDHD5,ADA2,ATP6V1E1,BID,TUBA8,USP18,TPTEP1,SLC25A15P5,CECR7,CECR2,SLC25A18,BCL2L13,PEX26,MICAL3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005348
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,VN1R9P,LINC01664,HDHD5-AS1,FAM32BP,CECR3,CECR9,RN7SL843P,CLCP1,DNAJA1P6,MIR3198-1,LINC00528,MIR648,RHEBP3,LINC01634,ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,GAB4,IL17RA,TMEM121B,HDHD5,ADA2,ATP6V1E1,BID,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,CECR7,CECR2,SLC25A18,BCL2L13,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,MICAL3,TXNRD2
 
 morrow_08_ASD_discovery_cases-case5301
 
 
 Maternal
 NA
 NA
 5' end of SLC25A18
 
 tzetis_12_DD/ID_discovery_cases-case60
 
 
 De novo
 Unknown
 
 CCT8L2,FABP5P11,PARP4P3,LINC01665,HSFY1P1,GPM6BP3,MTND1P17,IGKV1OR22-5,IGKV2OR22-4,IGKV2OR22-3,IGKV3OR22-2,IGKV1OR22-1,VN1R9P,LINC01664,HDHD5-AS1,FAM32BP,CECR3,CECR9,RN7SL843P,CLCP1,DNAJA1P6,MIR3198-1,LINC00528,MIR648,RHEBP3,LINC01634,ARL2BPP10,KCNMB3P1,ANKRD62P1-PARP4P3,ANKRD62P1,VWFP1,XKR3,ZNF402P,GAB4,IL17RA,TMEM121B,HDHD5,ADA2,ATP6V1E1,BID,TUBA8,USP18,TPTEP1,SLC25A15P5,CECR7,CECR2,SLC25A18,BCL2L13,PEX26,MICAL3
 

Controls

No Control Data Available
No Animal Model Data Available
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