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11q12.1-q12.2CNV Type: Duplication


Largest CNV size: 3552242 bp

Statistics Box:
Number of Reports: 5



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 3391000
 1
 0
 1
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 3284263
 1
 0
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 3284263
 1
 0
 1
 mak_17_ASD_discovery_cases
 Chinese patients diagnosed with ASD recruited from a child assessment center (Department of Pediatrics and Adolescent Medicine, the University of Hong Kong) between January 2011 and August 2014.
 258
 Diagnosis of ASD made using DSM-IV-TR or DSM-V; tools such as CARS, CHAT-23 modified, ADI-R, or ADOS were used in difficult cases
 Range, 1.5-25 years
 83.33% Male
 5550000
 0
 1
 1
 rosenfeld_10_ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 1461
 ASD
 
 
 3552242
 0
 1
 1
 rosenfeld_10_non-ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 21219
 Controls (no diagnosis or indication of ASD)
 
 
 
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 0
 0
 0
 0
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 0
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 None
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 mak_17_ASD_discovery_cases
  Chinese
 aCGH
  NimbleGen CGX-135K or Agilent-CGX 60K
 
 
 None
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 rosenfeld_10_non-ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  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
  girirajan_13a_ASD_discovery_cases-13726.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 57075949
 60465951
  3390003
 GRCh38
 Deletion
 No
  krumm_13_ASD_discovery_cases-case13726.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 13726. SRS score of 80.
 Full-scale IQ (FSIQ) score of 61.
 57181893
 60466157
  3284265
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13726.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 57181893
 60466157
  3284265
 GRCh38
 Deletion
 Yes
  mak_17_ASD_discovery_cases-case9
 29 mos.
 M
 ASD
 ASD
 
 56129314
 61675852
  5546539
 GRCh38
 Duplication (mosaic)
 No
  rosenfeld_10_ASD_discovery_cases-case23894
 NA
 NA
 ASD
 NA
 NA
 56613461
 60165703
  3552242
 Unknown
 Duplication
 Yes

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 girirajan_13a_ASD_discovery_cases-13726.p1
 
 
 Unknown
 Simplex
 Unknown
 LRRC55,APLNR,PRG3,PRG2,RNA5SP341,RN7SKP259,RN7SL605P,TIMM10,SMTNL1,RPS4XP13,MIR130A,YPEL4,PPIAP42,SELENOH,BTBD18,OR5BD1P,CYCSP26,RNU6-899P,OR6Q1,VN2R9P,OR9L1P,OR9I3P,OR9I1,OR9I2P,OR5BL1P,OR9Q2,OR1S2,OR1S1,EIF4A2P3,OR10W1,OR10Q2P,OR5BC1P,OR5B19P,OR5B10P,OR5B17,OR5B1P,OR5B15P,OR5B3,CNTF,TMA16P1,GLYATL1B,FAM111A-DT,RN7SL42P,WARSP1,SLC25A47P1,RN7SL435P,OR5BR1P,OR4D8P,OR4D11,OR4D9,OR4D7P,MIR3162,RN7SKP192,OR10V1,OR10Y1P,OR10V3P,OR10V2P,FABP5P7,MRPL16,TCN1,SRD5A3P1,MIR6503,TNKS1BP1,SSRP1,P2RX3,RTN4RL2,SLC43A1,UBE2L6,SERPING1,CLP1,MED19,TMX2,TMX2-CTNND1,OR5BA1P,OR5AZ1P,OR10Q1,OR5B2,OR5B12,OR5B21,LPXN,GLYATL1P2,GLYATL1P4,FAM111A,DTX4,MPEG1,OR5AN2P,OR5AN1,OR5BB1P,OR5A2,OR5A1,OR4D6,OR4D10,OSBP,OOSP3,OOSP1,OOSP4A,OOSP2,MS4A3,MS4A2,MS4A6A,MS4A4E,MS4A6E,MS4A7,MS4A14,MS4A5,MS4A1,SLC43A3,CTNND1,OR9Q1,ZFP91,ZFP91-CNTF,GLYATL2,GLYATL1,GLYATL1P1,FAM111B,PATL1,OOSP4B,MS4A4A,ZDHHC5,STX3,GLYAT
 
 krumm_13_ASD_discovery_cases-case13726.p1
 Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
 
 De novo
 Simplex
 Segregated
 LRRC55,APLNR,PRG3,PRG2,RNA5SP341,RN7SKP259,RN7SL605P,TIMM10,SMTNL1,RPS4XP13,MIR130A,YPEL4,PPIAP42,SELENOH,BTBD18,OR5BD1P,CYCSP26,RNU6-899P,OR6Q1,VN2R9P,OR9L1P,OR9I3P,OR9I1,OR9I2P,OR5BL1P,OR9Q2,OR1S2,OR1S1,EIF4A2P3,OR10W1,OR10Q2P,OR5BC1P,OR5B19P,OR5B10P,OR5B17,OR5B1P,OR5B15P,OR5B3,CNTF,TMA16P1,GLYATL1B,FAM111A-DT,RN7SL42P,WARSP1,SLC25A47P1,RN7SL435P,OR5BR1P,OR4D8P,OR4D11,OR4D9,OR4D7P,MIR3162,RN7SKP192,OR10V1,OR10Y1P,OR10V3P,OR10V2P,FABP5P7,MRPL16,TCN1,SRD5A3P1,MIR6503,TNKS1BP1,SSRP1,P2RX3,RTN4RL2,SLC43A1,UBE2L6,SERPING1,CLP1,MED19,TMX2,TMX2-CTNND1,OR5BA1P,OR5AZ1P,OR10Q1,OR5B2,OR5B12,OR5B21,LPXN,GLYATL1P2,GLYATL1P4,FAM111A,DTX4,MPEG1,OR5AN2P,OR5AN1,OR5BB1P,OR5A2,OR5A1,OR4D6,OR4D10,OSBP,OOSP3,OOSP1,OOSP4A,OOSP2,MS4A3,MS4A2,MS4A6A,MS4A4E,MS4A6E,MS4A7,MS4A14,MS4A5,MS4A1,SLC43A3,CTNND1,OR9Q1,ZFP91,ZFP91-CNTF,GLYATL2,GLYATL1,GLYATL1P1,FAM111B,PATL1,OOSP4B,MS4A4A,ZDHHC5,STX3,GLYAT
 
 krumm_15_ASD_discovery_cases-case13726.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Segregated
 LRRC55,APLNR,PRG3,PRG2,RNA5SP341,RN7SKP259,RN7SL605P,TIMM10,SMTNL1,RPS4XP13,MIR130A,YPEL4,PPIAP42,SELENOH,BTBD18,OR5BD1P,CYCSP26,RNU6-899P,OR6Q1,VN2R9P,OR9L1P,OR9I3P,OR9I1,OR9I2P,OR5BL1P,OR9Q2,OR1S2,OR1S1,EIF4A2P3,OR10W1,OR10Q2P,OR5BC1P,OR5B19P,OR5B10P,OR5B17,OR5B1P,OR5B15P,OR5B3,CNTF,TMA16P1,GLYATL1B,FAM111A-DT,RN7SL42P,WARSP1,SLC25A47P1,RN7SL435P,OR5BR1P,OR4D8P,OR4D11,OR4D9,OR4D7P,MIR3162,RN7SKP192,OR10V1,OR10Y1P,OR10V3P,OR10V2P,FABP5P7,MRPL16,TCN1,SRD5A3P1,MIR6503,TNKS1BP1,SSRP1,P2RX3,RTN4RL2,SLC43A1,UBE2L6,SERPING1,CLP1,MED19,TMX2,TMX2-CTNND1,OR5BA1P,OR5AZ1P,OR10Q1,OR5B2,OR5B12,OR5B21,LPXN,GLYATL1P2,GLYATL1P4,FAM111A,DTX4,MPEG1,OR5AN2P,OR5AN1,OR5BB1P,OR5A2,OR5A1,OR4D6,OR4D10,OSBP,OOSP3,OOSP1,OOSP4A,OOSP2,MS4A3,MS4A2,MS4A6A,MS4A4E,MS4A6E,MS4A7,MS4A14,MS4A5,MS4A1,SLC43A3,CTNND1,OR9Q1,ZFP91,ZFP91-CNTF,GLYATL2,GLYATL1,GLYATL1P1,FAM111B,PATL1,OOSP4B,MS4A4A,ZDHHC5,STX3,GLYAT
 
 mak_17_ASD_discovery_cases-case9
 
 
 Unknown
 
 
 OR5BN1P,OR8J3,OR8K4P,OR8K5,OR5J7P,OR5J2,OR8V1P,OR5T2,OR5T3,OR5T1,OR8H1,OR8I1P,OR8K3,FAM8A2P,OR8K2P,OR8K1,RPL5P29,OR8U1,OR8L1P,OR5AL2P,OR5AL1,OR5R1,OR5M4P,OR5M9,OR5M3,OR5M2P,OR5M8,OR5M7P,OR5M6P,OR5M5P,OR5M11,OR5M10,OR5M13P,OR5M1,OR5AM1P,OR5M12P,OR5AP1P,OR5AP2,OR5AR1,OR9G1,OR9G3P,OR9G4,MIR6128,OR9G2P,OR5G1P,OR5G4P,OR5AK3P,OR5AK2,OR5AK1P,OR5BQ1P,OR5AK4P,OR5AO1P,OR5BP1P,LRRC55,APLNR,PRG3,PRG2,RNA5SP341,RN7SKP259,RN7SL605P,TIMM10,SMTNL1,RPS4XP13,MIR130A,YPEL4,PPIAP42,SELENOH,BTBD18,OR5BD1P,CYCSP26,RNU6-899P,OR6Q1,VN2R9P,OR9L1P,OR9I3P,OR9I1,OR9I2P,OR5BL1P,OR9Q2,OR1S2,OR1S1,EIF4A2P3,OR10W1,OR10Q2P,OR5BC1P,OR5B19P,OR5B10P,OR5B17,OR5B1P,OR5B15P,OR5B3,CNTF,TMA16P1,GLYATL1B,FAM111A-DT,RN7SL42P,WARSP1,SLC25A47P1,RN7SL435P,OR5BR1P,OR4D8P,OR4D11,OR4D9,OR4D7P,MIR3162,RN7SKP192,OR10V1,OR10Y1P,OR10V3P,OR10V2P,FABP5P7,MRPL16,TCN1,SRD5A3P1,MIR6503,PTGDR2,ZP1,RNU6-933P,TMEM138,TMEM216,RN7SL23P,MIR4488,LRRC10B,OR8J2,OR2AH1P,OR5G5P,OR5G3,FADS2P1,TNKS1BP1,SSRP1,P2RX3,RTN4RL2,SLC43A1,UBE2L6,SERPING1,CLP1,MED19,TMX2,TMX2-CTNND1,OR5BA1P,OR5AZ1P,OR10Q1,OR5B2,OR5B12,OR5B21,LPXN,GLYATL1P2,GLYATL1P4,FAM111A,DTX4,MPEG1,OR5AN2P,OR5AN1,OR5BB1P,OR5A2,OR5A1,OR4D6,OR4D10,OSBP,OOSP3,OOSP1,OOSP4A,OOSP2,MS4A3,MS4A2,MS4A6A,MS4A4E,MS4A6E,MS4A7,MS4A14,MS4A5,MS4A1,MS4A12,MS4A13,MS4A8,MS4A18,MS4A15,MS4A10,CCDC86,PRPF19,TMEM109,TMEM132A,CD6,CD5,VPS37C,PGA4,PGA5,VWCE,CYB561A3,CPSF7,SDHAF2,PPP1R32,SYT7,RPLP0P2,OR8J1,SLC43A3,CTNND1,OR9Q1,ZFP91,ZFP91-CNTF,GLYATL2,GLYATL1,GLYATL1P1,FAM111B,PATL1,OOSP4B,MS4A4A,LINC00301,SLC15A3,PGA3,DDB1,TKFC,ZDHHC5,STX3,GLYAT
 
 rosenfeld_10_ASD_discovery_cases-case23894
 FISH
 
 Unknown
 Unknown
 Unknown
 LRRC55,APLNR,TNKS1BP1,SSRP1,P2RX3,PRG3,PRG2,SLC43A3,RTN4RL2,SLC43A1,TIMM10,SMTNL1,UBE2L6,SERPING1,YPEL4,CLP1,ZDHHC5,MED19,TMX2,C11orf31,BTBD18,CTNND1,OR9Q1,OR6Q1,OR9I1,OR9Q2,OR1S2,OR1S1,OR10Q1,OR10W1,OR5B17,OR5B3,OR5B2,OR5B12,OR5B21,LPXN,ZFP91,CNTF,GLYAT,GLYATL2,GLYATL1,FAM111B,FAM111A,DTX4,MPEG1,OR5AN1,OR5A2,OR5A1,OR4D6,OR4D10,OR4D11,OR4D9,OSBP,PATL1,OR10V1,STX3,MRPL16,GIF,TCN1,PLAC1L,MS4A3,MS4A2,MS4A6A,MS4A4A,MS4A6E,MS4A7,MS4A14,MS4A5,MS4A1,MS4A12,MS4A13
 

Controls

No Control Data Available
No Animal Model Data Available
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