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15q24.2-q24.3CNV Type: Deletion-Duplication


Largest CNV size: 2230000 bp

Statistics Box:
Number of Reports: 1



Summary Information

CNVs within this region were found to be signficantly enriched in cases with developmental delay, intellectual disability, and other neurodevelopmental disorders (including ASD), compared to controls (Girirajan et al., 2012).

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion-Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type

No Minor Reports

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 girirajan_12_ASD/DD/ID_discovery_cases
 Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
 32587
 Developmental delay with or without congenital malformations
 
 
 2230000
 5
 6
 11

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 2230000
 0
 0
 0
 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
 214473
 0
 1
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 202678
 0
 1
 1
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 241617
 0
 1
 1
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 246239
 0
 1
 1

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 girirajan_12_ASD/DD/ID_discovery_cases
 
 aCGH
  BACs aCGH, SignatureChipOS
 
 
 FISH, aCGH, or confirmation by inheritance

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  girirajan_12_ASD/DD/ID_discovery_controls
 
  aCGH
  BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
 
 
 
  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
  Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 

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_12_ASD/DD/ID_discovery_cases-case0825
 NA
 NA
 Developmental delay
 NA
 NA
 75680604
 77910603
  2230000
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0826
 NA
 NA
 Developmental delay
 NA
 NA
 75680604
 77910603
  2230000
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0827
 NA
 NA
 Developmental delay
 NA
 NA
 75680604
 77910603
  2230000
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0828
 NA
 NA
 Developmental delay
 NA
 NA
 75680604
 77910603
  2230000
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0829
 NA
 NA
 Developmental delay
 NA
 NA
 75680604
 77910603
  2230000
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0830
 NA
 NA
 Developmental delay
 NA
 NA
 75680604
 77910603
  2230000
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0831
 NA
 NA
 Developmental delay
 NA
 NA
 75680604
 77910603
  2230000
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0832
 NA
 NA
 Developmental delay
 NA
 NA
 75680604
 77910603
  2230000
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0833
 NA
 NA
 Developmental delay
 NA
 NA
 75680604
 77910603
  2230000
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0834
 NA
 NA
 Developmental delay
 NA
 NA
 75680604
 77910603
  2230000
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0835
 NA
 NA
 Developmental delay
 NA
 NA
 75680604
 77910603
  2230000
 GRCh38
 Duplication
 NA

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  krumm_13_ASD_discovery_controls-control11229.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11229. SRS score of 48.
 
  76134263
  76348736
  214474
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11229.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  76134263
  76336941
  202679
  GRCh38
  Duplication
  Yes
  levy_11_ASD_discovery_controls-11229.s1
  NA
  M
  Control
  NA
  NA
  76107801
  76349417
  241617
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11229.s1
  6.1
  M
  Control (matched sibling)
  NA
  NA
  76102078
  76348317
  246240
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 girirajan_12_ASD/DD/ID_discovery_cases-case0825
 NA
 
 Unknown
 Unknown
 Unknown
 DNM1P35,PPIAP47,MIR4313,RN7SL319P,RN7SL510P,TYRO3P,ISL2,MIR3713,RN7SKP217,RN7SL278P,KRT8P23,CSPG4P13,CSPG4,ODF3L1,DNM1P49,FBXO22,PSTPIP1,LINGO1-AS1,LINGO1-AS2,UBE2Q2,NRG4,TMEM266,ETFA,RCN2,TSPAN3,PEAK1,HMG20A,LINGO1,SCAPER
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0826
 NA
 
 Unknown
 Unknown
 Unknown
 DNM1P35,PPIAP47,MIR4313,RN7SL319P,RN7SL510P,TYRO3P,ISL2,MIR3713,RN7SKP217,RN7SL278P,KRT8P23,CSPG4P13,CSPG4,ODF3L1,DNM1P49,FBXO22,PSTPIP1,LINGO1-AS1,LINGO1-AS2,UBE2Q2,NRG4,TMEM266,ETFA,RCN2,TSPAN3,PEAK1,HMG20A,LINGO1,SCAPER
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0827
 NA
 
 Unknown
 Unknown
 Unknown
 DNM1P35,PPIAP47,MIR4313,RN7SL319P,RN7SL510P,TYRO3P,ISL2,MIR3713,RN7SKP217,RN7SL278P,KRT8P23,CSPG4P13,CSPG4,ODF3L1,DNM1P49,FBXO22,PSTPIP1,LINGO1-AS1,LINGO1-AS2,UBE2Q2,NRG4,TMEM266,ETFA,RCN2,TSPAN3,PEAK1,HMG20A,LINGO1,SCAPER
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0828
 NA
 
 Unknown
 Unknown
 Unknown
 DNM1P35,PPIAP47,MIR4313,RN7SL319P,RN7SL510P,TYRO3P,ISL2,MIR3713,RN7SKP217,RN7SL278P,KRT8P23,CSPG4P13,CSPG4,ODF3L1,DNM1P49,FBXO22,PSTPIP1,LINGO1-AS1,LINGO1-AS2,UBE2Q2,NRG4,TMEM266,ETFA,RCN2,TSPAN3,PEAK1,HMG20A,LINGO1,SCAPER
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0829
 NA
 
 Unknown
 Unknown
 Unknown
 DNM1P35,PPIAP47,MIR4313,RN7SL319P,RN7SL510P,TYRO3P,ISL2,MIR3713,RN7SKP217,RN7SL278P,KRT8P23,CSPG4P13,CSPG4,ODF3L1,DNM1P49,FBXO22,PSTPIP1,LINGO1-AS1,LINGO1-AS2,UBE2Q2,NRG4,TMEM266,ETFA,RCN2,TSPAN3,PEAK1,HMG20A,LINGO1,SCAPER
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0830
 NA
 
 Unknown
 Unknown
 Unknown
 DNM1P35,PPIAP47,MIR4313,RN7SL319P,RN7SL510P,TYRO3P,ISL2,MIR3713,RN7SKP217,RN7SL278P,KRT8P23,CSPG4P13,CSPG4,ODF3L1,DNM1P49,FBXO22,PSTPIP1,LINGO1-AS1,LINGO1-AS2,UBE2Q2,NRG4,TMEM266,ETFA,RCN2,TSPAN3,PEAK1,HMG20A,LINGO1,SCAPER
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0831
 NA
 
 Unknown
 Unknown
 Unknown
 DNM1P35,PPIAP47,MIR4313,RN7SL319P,RN7SL510P,TYRO3P,ISL2,MIR3713,RN7SKP217,RN7SL278P,KRT8P23,CSPG4P13,CSPG4,ODF3L1,DNM1P49,FBXO22,PSTPIP1,LINGO1-AS1,LINGO1-AS2,UBE2Q2,NRG4,TMEM266,ETFA,RCN2,TSPAN3,PEAK1,HMG20A,LINGO1,SCAPER
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0832
 NA
 
 Unknown
 Unknown
 Unknown
 DNM1P35,PPIAP47,MIR4313,RN7SL319P,RN7SL510P,TYRO3P,ISL2,MIR3713,RN7SKP217,RN7SL278P,KRT8P23,CSPG4P13,CSPG4,ODF3L1,DNM1P49,FBXO22,PSTPIP1,LINGO1-AS1,LINGO1-AS2,UBE2Q2,NRG4,TMEM266,ETFA,RCN2,TSPAN3,PEAK1,HMG20A,LINGO1,SCAPER
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0833
 NA
 
 Unknown
 Unknown
 Unknown
 DNM1P35,PPIAP47,MIR4313,RN7SL319P,RN7SL510P,TYRO3P,ISL2,MIR3713,RN7SKP217,RN7SL278P,KRT8P23,CSPG4P13,CSPG4,ODF3L1,DNM1P49,FBXO22,PSTPIP1,LINGO1-AS1,LINGO1-AS2,UBE2Q2,NRG4,TMEM266,ETFA,RCN2,TSPAN3,PEAK1,HMG20A,LINGO1,SCAPER
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0834
 NA
 
 Unknown
 Unknown
 Unknown
 DNM1P35,PPIAP47,MIR4313,RN7SL319P,RN7SL510P,TYRO3P,ISL2,MIR3713,RN7SKP217,RN7SL278P,KRT8P23,CSPG4P13,CSPG4,ODF3L1,DNM1P49,FBXO22,PSTPIP1,LINGO1-AS1,LINGO1-AS2,UBE2Q2,NRG4,TMEM266,ETFA,RCN2,TSPAN3,PEAK1,HMG20A,LINGO1,SCAPER
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0835
 NA
 
 Unknown
 Unknown
 Unknown
 DNM1P35,PPIAP47,MIR4313,RN7SL319P,RN7SL510P,TYRO3P,ISL2,MIR3713,RN7SKP217,RN7SL278P,KRT8P23,CSPG4P13,CSPG4,ODF3L1,DNM1P49,FBXO22,PSTPIP1,LINGO1-AS1,LINGO1-AS2,UBE2Q2,NRG4,TMEM266,ETFA,RCN2,TSPAN3,PEAK1,HMG20A,LINGO1,SCAPER
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_13_ASD_discovery_controls-control11229.s1
  Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
 
  Paternal
  Simplex
 
  TYRO3P,ISL2,TMEM266,ETFA,SCAPER
 
krumm_15_ASD_discovery_controls-control11229.s1
  Illumina 1M
 
  Paternal
 
 
  TYRO3P,ISL2,TMEM266,ETFA
 
levy_11_ASD_discovery_controls-11229.s1
 
 
  Paternal
  Simplex
  NA
  TYRO3P,ISL2,TMEM266,ETFA,SCAPER
 
sanders_11_ASD_discovery_controls-11229.s1
 
 
  Paternal
  Simplex (quad)
  NA
  TYRO3P,ISL2,TMEM266,ETFA,SCAPER
 

No Animal Model Data Available
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