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6q25.3-q27CNV Type: Deletion-Duplication


Largest CNV size: 11757226 bp

Statistics Box:
Number of Reports: 2


Summary Information

CNVs within this region were found in seven cases 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

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USCS Symbol             NCBI Symbol

Decipher

            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
NA
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 chaves_24_ASD/DD/ID_discovery_cases
  NA NA
 CMA read files performed by the Laboratrio Neurogene in Florianpolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmo Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de So Thiago and from private clinics in Florianpolis, State of Santa Catarina, betwee
 1012
 83% of cases presented with developmental delay (DD) and/or intellectual disability (ID), with 33% of cases presented with autism spectrum disorder.
 Mean age, 10yrs. (median7.15 yrs., standard deviation10.2).
 60.77% Male
 11598826
 1
 0
 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
 11757226
 6
 1
 7

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
 chaves_24_ASD/DD/ID_discovery_cases
  Brazil
 Array SNP
  Affymetrix CytoScan 750K, Affymetrix CytoScan HD
 
 Affymetrix ChAS
 
 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

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
  chaves_24_ASD/DD/ID_discovery_cases-case652
  NA NA
 
 F
 Developmental delay and intellectual disability
 Microcephaly, developmental delay, facial dysmorphism. Karyotype: 46,XX/46,XX del(6) (q13q15)?.
 Intellectual disability
 159006384
 170605209
  11598826
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002217
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 160359686
 170608818
  10249133
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004116
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 159825913
 170612001
  10786089
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004247
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 160422761
 170612001
  10189241
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004797
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 158664768
 170612001
  11947234
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005136
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 159454639
 170612001
  11157363
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005295
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 159454639
 170612001
  11157363
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005391
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 160328288
 170612001
  10283714
 GRCh38
 Deletion
 Yes

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 chaves_24_ASD/DD/ID_discovery_cases-case652
 
 
 Unknown
 
 
 ACAT2,CCR6,DLL1,MRPL18,MPC1,PHF10,UNC93A,ERMARD,AGPAT4,SMOC2,TTLL2,FRMD1,LINC00574,LPAL2,FAM120B,FNDC1,SFT2D1,TAGAP,PACRG,C6orf118,DACT2,PNLDC1,IGF2R,GPR31,GNG5P1,WDR27,PRR18,PACRG-AS1,C6orf120,GAPDHP72,RAMACL,LINC02487,TCP10L2,LINC02538,LINC01624,LINC00242,LINC00602,AFDN-DT,SNORA29,SNORA20,PACRG-AS3,CHP1P2,SOD2-OT1,KRT8P44,LPA,MAS1,PRKN,AFDN,KIF25,MAP3K4,HNRNPH1P1,RPL12P23,AIRN,MIR1913,CTAGE13P,MIR3939,KIF25-AS1,CAHM,RPS6KA2-AS1,MIR4644,RPS6KA2-IT1,FNDC1-IT1,PLG,PDCD2,PSMB1,RPS6KA2,PACRG-AS2,LINC02544,LINC01615,LINC02529,LINC02519,TAGAP-AS1,RNA5SP226,TBXT,SLC22A3,SLC22A2,TBP,SOD2,TCP1,THBS2,TCP10L3,SLC22A1,DYNLT2,RNU6-153P,RNU6-730P,RN7SL366P,HNRNPA1P49,VTA1P1,RNU4ATAC18P,RNASET2,LNCDAT,MPC1-DT,MAP3K4-AS1,QKI,WTAP,CEP43,PDE10A,LINC01558
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002217
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 AGPAT4-IT1,KRT8P44,DKFZp451B082,CAHM,RN7SL366P,RNA5SP226,RNU6-730P,LINC00602,GAPDHP72,RNU6-153P,GNG5P1,PRR18,HNRNPA1P49,MIR1913,RAMACL,MIR3939,GPR31,AFDN-DT,HGC6.3,KIF25-AS1,CTAGE13P,LINC01615,VTA1P1,C6orf120,TCTE3,LINC00242,LINC00574,RPL12P23,MIR4644,PDCD2,LPAL2,PLG,TBXT,MPC1,RPS6KA2-AS1,RNASET2,FGFR1OP,TCP10L2,HPAT5,UNC93A,TTLL2,LINC02538,LINC02487,LINC01558,FRMD1,LINC02544,THBS2,LINC02519,PHF10,ERMARD,LINC01624,DLL1,PSMB1,TBP,LPA,MAP3K4,AGPAT4,PACRG,PACRG-AS2,PACRG-AS3,PACRG-AS1,C6orf118,SFT2D1,RPS6KA2-IT1,CCR6,TCP10,AFDN,KIF25,DACT2,SMOC2,WDR27,FAM120B,SLC22A3,PRKN,QKI,PDE10A,RPS6KA2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004116
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 AGPAT4-IT1,KRT8P44,DKFZp451B082,CAHM,RN7SL366P,RNA5SP226,RNU6-730P,LINC00602,GAPDHP72,RNU6-153P,GNG5P1,PRR18,HNRNPA1P49,MIR1913,RAMACL,MIR3939,GPR31,AFDN-DT,HGC6.3,KIF25-AS1,CTAGE13P,LINC01615,VTA1P1,C6orf120,TCTE3,LINC00242,LINC00574,RPL12P23,MIR4644,PDCD2,AIRN,SLC22A1,SLC22A2,LPAL2,PLG,TBXT,MPC1,RPS6KA2-AS1,RNASET2,FGFR1OP,TCP10L2,HPAT5,UNC93A,TTLL2,LINC02538,LINC02487,LINC01558,FRMD1,LINC02544,THBS2,LINC02519,PHF10,ERMARD,LINC01624,DLL1,PSMB1,TBP,MAS1,IGF2R,LPA,MAP3K4,AGPAT4,PACRG,PACRG-AS2,PACRG-AS3,PACRG-AS1,C6orf118,SFT2D1,RPS6KA2-IT1,CCR6,TCP10,AFDN,KIF25,DACT2,SMOC2,WDR27,FAM120B,SLC22A3,PRKN,QKI,PDE10A,RPS6KA2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004247
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 AGPAT4-IT1,KRT8P44,DKFZp451B082,CAHM,RN7SL366P,RNA5SP226,RNU6-730P,LINC00602,GAPDHP72,RNU6-153P,GNG5P1,PRR18,HNRNPA1P49,MIR1913,RAMACL,MIR3939,GPR31,AFDN-DT,HGC6.3,KIF25-AS1,CTAGE13P,LINC01615,VTA1P1,C6orf120,TCTE3,LINC00242,LINC00574,RPL12P23,MIR4644,PDCD2,LPAL2,PLG,TBXT,MPC1,RPS6KA2-AS1,RNASET2,FGFR1OP,TCP10L2,HPAT5,UNC93A,TTLL2,LINC02538,LINC02487,LINC01558,FRMD1,LINC02544,THBS2,LINC02519,PHF10,ERMARD,LINC01624,DLL1,PSMB1,TBP,LPA,MAP3K4,AGPAT4,PACRG,PACRG-AS2,PACRG-AS3,PACRG-AS1,C6orf118,SFT2D1,RPS6KA2-IT1,CCR6,TCP10,AFDN,KIF25,DACT2,SMOC2,WDR27,FAM120B,SLC22A3,PRKN,QKI,PDE10A,RPS6KA2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004797
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 AMZ2P2,MIR3918,EZR-AS1,RNU6-293P,FNDC1-IT1,HNRNPH1P1,RNU4ATAC18P,TCP1,SNORA20,SNORA29,AGPAT4-IT1,KRT8P44,DKFZp451B082,CAHM,RN7SL366P,RNA5SP226,RNU6-730P,LINC00602,GAPDHP72,RNU6-153P,GNG5P1,PRR18,HNRNPA1P49,MIR1913,RAMACL,MIR3939,GPR31,AFDN-DT,HGC6.3,KIF25-AS1,CTAGE13P,LINC01615,VTA1P1,C6orf120,TCTE3,LINC00242,LINC00574,RPL12P23,MIR4644,PDCD2,EZR,OSTCP1,C6orf99,TAGAP,SOD2,WTAP,SOD2-OT1,MRPL18,PNLDC1,AIRN,SLC22A1,SLC22A2,LPAL2,PLG,TBXT,MPC1,RPS6KA2-AS1,RNASET2,FGFR1OP,TCP10L2,HPAT5,UNC93A,TTLL2,LINC02538,LINC02487,LINC01558,FRMD1,LINC02544,THBS2,LINC02519,PHF10,ERMARD,LINC01624,DLL1,PSMB1,TBP,SYTL3,RSPH3,FNDC1,ACAT2,MAS1,IGF2R,LPA,MAP3K4,AGPAT4,PACRG,PACRG-AS2,PACRG-AS3,PACRG-AS1,C6orf118,SFT2D1,RPS6KA2-IT1,CCR6,TCP10,AFDN,KIF25,DACT2,SMOC2,WDR27,FAM120B,SLC22A3,PRKN,QKI,PDE10A,RPS6KA2,LINC02529
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005136
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 HNRNPH1P1,RNU4ATAC18P,TCP1,SNORA20,SNORA29,AGPAT4-IT1,KRT8P44,DKFZp451B082,CAHM,RN7SL366P,RNA5SP226,RNU6-730P,LINC00602,GAPDHP72,RNU6-153P,GNG5P1,PRR18,HNRNPA1P49,MIR1913,RAMACL,MIR3939,GPR31,AFDN-DT,HGC6.3,KIF25-AS1,CTAGE13P,LINC01615,VTA1P1,C6orf120,TCTE3,LINC00242,LINC00574,RPL12P23,MIR4644,PDCD2,SOD2,WTAP,SOD2-OT1,MRPL18,PNLDC1,AIRN,SLC22A1,SLC22A2,LPAL2,PLG,TBXT,MPC1,RPS6KA2-AS1,RNASET2,FGFR1OP,TCP10L2,HPAT5,UNC93A,TTLL2,LINC02538,LINC02487,LINC01558,FRMD1,LINC02544,THBS2,LINC02519,PHF10,ERMARD,LINC01624,DLL1,PSMB1,TBP,ACAT2,MAS1,IGF2R,LPA,MAP3K4,AGPAT4,PACRG,PACRG-AS2,PACRG-AS3,PACRG-AS1,C6orf118,SFT2D1,RPS6KA2-IT1,CCR6,TCP10,AFDN,KIF25,DACT2,SMOC2,WDR27,FAM120B,SLC22A3,PRKN,QKI,PDE10A,RPS6KA2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005295
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 HNRNPH1P1,RNU4ATAC18P,TCP1,SNORA20,SNORA29,AGPAT4-IT1,KRT8P44,DKFZp451B082,CAHM,RN7SL366P,RNA5SP226,RNU6-730P,LINC00602,GAPDHP72,RNU6-153P,GNG5P1,PRR18,HNRNPA1P49,MIR1913,RAMACL,MIR3939,GPR31,AFDN-DT,HGC6.3,KIF25-AS1,CTAGE13P,LINC01615,VTA1P1,C6orf120,TCTE3,LINC00242,LINC00574,RPL12P23,MIR4644,PDCD2,SOD2,WTAP,SOD2-OT1,MRPL18,PNLDC1,AIRN,SLC22A1,SLC22A2,LPAL2,PLG,TBXT,MPC1,RPS6KA2-AS1,RNASET2,FGFR1OP,TCP10L2,HPAT5,UNC93A,TTLL2,LINC02538,LINC02487,LINC01558,FRMD1,LINC02544,THBS2,LINC02519,PHF10,ERMARD,LINC01624,DLL1,PSMB1,TBP,ACAT2,MAS1,IGF2R,LPA,MAP3K4,AGPAT4,PACRG,PACRG-AS2,PACRG-AS3,PACRG-AS1,C6orf118,SFT2D1,RPS6KA2-IT1,CCR6,TCP10,AFDN,KIF25,DACT2,SMOC2,WDR27,FAM120B,SLC22A3,PRKN,QKI,PDE10A,RPS6KA2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005391
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 AGPAT4-IT1,KRT8P44,DKFZp451B082,CAHM,RN7SL366P,RNA5SP226,RNU6-730P,LINC00602,GAPDHP72,RNU6-153P,GNG5P1,PRR18,HNRNPA1P49,MIR1913,RAMACL,MIR3939,GPR31,AFDN-DT,HGC6.3,KIF25-AS1,CTAGE13P,LINC01615,VTA1P1,C6orf120,TCTE3,LINC00242,LINC00574,RPL12P23,MIR4644,PDCD2,LPAL2,PLG,TBXT,MPC1,RPS6KA2-AS1,RNASET2,FGFR1OP,TCP10L2,HPAT5,UNC93A,TTLL2,LINC02538,LINC02487,LINC01558,FRMD1,LINC02544,THBS2,LINC02519,PHF10,ERMARD,LINC01624,DLL1,PSMB1,TBP,LPA,MAP3K4,AGPAT4,PACRG,PACRG-AS2,PACRG-AS3,PACRG-AS1,C6orf118,SFT2D1,RPS6KA2-IT1,CCR6,TCP10,AFDN,KIF25,DACT2,SMOC2,WDR27,FAM120B,SLC22A3,PRKN,QKI,PDE10A,RPS6KA2
 

Controls

No Control Data Available
No Animal Model Data Available
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