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3q11.1-q12.1CNV Type: Duplication


Largest CNV size: 4755557 bp

Statistics Box:
Number of Reports: 1



Summary Information

A maternally-transmitted duplication within this region was identifed in an ASD proband from the Simons Simplex Collection but not in the proband's unaffected sibling (Krumm et al., 2015).

Additional Locus Information

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USCS Symbol             NCBI Symbol

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            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Excess of rare, inherited truncating mutations in autism.
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
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 4755557
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  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
  krumm_15_ASD_discovery_cases-case14204.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 94126210
 98881767
  4755558
 GRCh38
 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
 krumm_15_ASD_discovery_cases-case14204.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 ARMC10P1,WDR82P1,RPS18P6,HNRNPKP4,MIR8060,RNU6-1094P,MTRNR2L12,RPL18AP8,RCC2P5,CDV3P1,OR5BM1P,OR5AC1,OR5AC2,OR5AC4P,POU5F1P7,OR5H1,OR5H15,OR5H5P,OR5H3P,OR5H6,OR5H2,OR5H8,OR5K4,OR5K3,UBFD1P1,OR5K2,RPL38P4,GPR15,WWP1P1,PDLIM1P4,RNU6-26P,RIOX2,GABRR3,OR5H14,OR5H4P,OR5H7P,OR5K1,CLDND1,CPOX,ST3GAL6-AS1,ST3GAL6,NSUN3,LINC00879,MTHFD2P1,ARL6,CRYBG3,DCBLD2,EPHA6
 

Controls

No Control Data Available
No Animal Model Data Available
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