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15q25.2-q26.1CNV Type: Deletion


Largest CNV size: 6980000 bp

Statistics Box:
Number of Reports: 1



Summary Information

A de novo deletion within this region was identified in a 4-year-old male proband presenting with high-functioning ASD from a cohort of 258 Chinese ASD probands (Mak et al., 2017).

Additional Locus Information

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            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type

No Major Reports

Minor Reports

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

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 6980000
 1
 0
 1

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 mak_17_ASD_discovery_cases
  Chinese
 aCGH
  NimbleGen CGX-135K or Agilent-CGX 60K
 
 
 None

Controls

No Control Data Available

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  mak_17_ASD_discovery_cases-case1
 4 yrs.
 M
 ASD
 High-functioning ASD
 
 83973494
 91082989
  7109496
 GRCh38
 Deletion
 No

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 mak_17_ASD_discovery_cases-case1
 
 
 De novo
 
 
 DNM1P41,RN7SL331P,GOLGA6L4,UBE2Q2P8,RN7SL417P,CSPG4P5,UBE2Q2P11,EGLN1P1,RNU6-339P,RNU6-796P,NIFKP8,RN7SL428P,MIR7706,RNU7-79P,RNU6-1280P,MIR1276,RNU6-231P,MIR548AP,RNA5SP400,RNU6-185P,LINC00052,MED28P6,MRPL46,MIR1179,MIR7-2,MIR3529,AEN,KRT18P47,RNU7-195P,HMGB1P8,MIR6766,MIR9-3,RPL36AP43,RNU6-132P,MESP1,MRPL15P1,MIR5094,MIR5009,RNU6-1111P,RNU7-111P,MIR3174,RN7SL346P,RPS12P26,CIB1,RN7SL736P,GABARAPL3,NDUFA3P4,HSPE1P3,LINC01585,RN7SL363P,FES,RCCD1,EFL1P1,UBE2Q2L,CSPG4P11,GOLGA2P7,UBE2Q2P12,GOLGA6L5P,LINC00933,ZSCAN2,SCAND2P,WDR73,NMB,ALPK3,GOLGA6L3,KLHL25,AGBL1-AS1,NTRK3-AS1,DET1,ISG20,HAPLN3,MFGE8,RLBP1,POLG,RHCG,TICRR,PLIN1,PEX11A,WDR93,MESP2,ANPEP,AP3S2,ARPIN,ZNF710-AS1,IDH2,IDH2-DT,GDPGP1,TTLL13P,NGRN,GOLGA2P8,ZNF774,BLM,FURIN,MAN2A2,HDDC3,UNC45A,PRC1,PRC1-AS1,VPS33B,VPS33B-DT,DNM1P51,UBE2Q2P1,SEC11A,ZNF592,PDE8A,CSPG4P12,ADAMTS7P4,AKAP13,LINC01584,AGBL1,MRPS11,LINC01586,ACAN,FANCI,MIR9-3HG,LINC00928,KIF7,ZNF710,IQGAP1,CRTC3,CRTC3-AS1,SLC28A1,NTRK3,ABHD2,SEMA4B,ADAMTSL3
 

Controls

No Control Data Available
No Animal Model Data Available
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