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19q13.42-q13.43CNV Type: Duplication


Largest CNV size: 3860000 bp

Statistics Box:
Number of Reports: 5



Summary Information

CNV screening of a cohort of 335 Han Chinese ASD probands in Chen et al., 2017 detected a de novo 3.86 Mb duplication in the 19q13.42-q13.43 locus in a male proband.

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
NA
Deletion
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
NA
Deletion
The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 chen_17_ASD_discovery_cases
 Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
 335
 All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
 Mean age, 9.4 4.0 years
 89.25% Male
 3860000
 0
 1
 1
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 664000
 1
 0
 1
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 987000
 1
 0
 1
 wang_20_ID_discovery_cases
 Patients recruited from the Department of Neurology, Affiliated Childrens Hospital of the Capital Institute of Pediatrics (Beijing, China) between Jan. 2016.01 and Dec. 2018.
 95
 All cases presented with intellectual disability (ID); 52 patients had ID with multiple congenital anomalies, and 14 patients had ID with autism spectrum disorder
 Range, 1 yr. 1 mo.-16 yrs.
 68.0% Male
 6350870
 0
 1
 1
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 1356692
 0
 4
 4

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 chen_17_ASD_discovery_controls1
 Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
 Mean age, 68.1 10.1 years
 48.03% Male
 0
 0
 0
 0
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 1356692
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 chen_17_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 RT-qPCR
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 qPCR
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 wang_20_ID_discovery_cases
  Han Chinese
 WGS
  Illumina HiSeq 2000
 
 Short Oligonucleotide Analysis Package (SOAP) v.2.21
 None
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  chen_17_ASD_discovery_controls1
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
 
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  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
  chen_17_ASD_discovery_cases-caseU-1957
 N/A
 M
 ASD
 Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 27 (past score 29); Qualitative abnormalities in verbal and nonverbal communication, current score n/a (past score n/a); Qualitative abnormalities in nonverbal communication, current score 11 (past score 12); Restricted, repetitive, and stereotyped patterns of behaviour, current score 8 (past score 8); Abnormality of development evident at or before 36 months, past score 5. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 129; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 41. Epilepsy: no history of epilepsy.
 Performance IQ n/a, Verbal IQ n/a, Full-scale IQ n/a
 54911986
 58586475
  3674490
 GRCh38
 Duplication
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300110
  NA NA
 N/A
 F
 Developmental delay
 Global developmental delay
 
 55178476
 55842526
  664051
 GRCh38
 Deletion
 Yes
  maini_18_ASD/DD/ID_discovery_cases-case_unknown83
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
 
 54911986
 55877035
  965050
 GRCh38
 Deletion
 No
  wang_20_ID_discovery_cases-case12
 4 yrs.
 M
 Developmental delay and intellectual disability
 Facial dysmorphism, global developmental delay, neonatal hypoglycemia
 Intellectual disability
 52256747
 58607616
  6350870
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case572
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 54911986
 56205860
  1293875
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case573
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 54911986
 56205860
  1293875
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case574
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 54911986
 56205860
  1293875
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case575
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 54911986
 56205860
  1293875
 GRCh38
 Duplication
 No

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 chen_17_ASD_discovery_cases-caseU-1957
 RT-qPCR
 
 De novo
 
 
 NCR1,MIR7975,TNNI3,SYT5,TMEM86B,MIR6804,MIR6802,MIR6803,COX6B2,IL11,TMEM238,MIR6805,UBE2S,SHISA7,C19orf85,ZNF628,NAT14,SBK2,ZNF579,FIZ1,ZNF524,CCDC106,RN7SKP109,RFPL4A,RFPL4AP1,LINC01864,ZSCAN5C,VN2R17P,SLC25A36P1,SIGLEC31P,SMIM17,ZNF835,MIMT1,ZIM3,AURKC,ZNF460,ZNF304,TRAPPC2B,ZNF17,VN1R1,VN1R107P,TPRG1LP1,ZNF552,FKBP1AP1,ZNF256,LETM1P2,HNRNPDLP4,RN7SL526P,RPS15AP36,MIR6806,A1BG,A1BG-AS1,RNA5SP473,MIR4754,RNF225,LINC02560,ZNF132,ZNF324B,RNU6-1337P,RN7SL525P,TRIM28,MIR6807,CHMP2A,NLRP7,NLRP2,GP6,EPS8L1,PPP1R12C,TNNT1,DNAAF3,PPP6R1,HSPBP1,TMEM150B,KMT5C,FAM71E2,TMEM190,RPL28,ISOC2,SSC5D,SBK3,ZNF865,ZNF784,ZNF580,ZNF581,U2AF2,NLRP9,RFPL4AL1,NLRP13,NLRP5,ZNF444,GALP,ZSCAN5B,ZSCAN5DP,EDDM13,ZNF542P,ZNF582,ZNF582-AS1,ZNF583,ZNF667,ZNF471,ZFP28,ZNF470,ZIM2-AS1,ZIM2,PEG3,RPL7AP69,USP29,DUXA,ZNF264,ZNF805,ZNF543,ZNF547,ZNF548,ZNF749,ZNF772,ZNF419,ZNF773,ZNF416,ZIK1,ZNF530,ZNF134,ZNF211,ZNF551,ZNF154,ZNF671,ZNF776,ZNF587B,ZNF814,ZNF587,ZNF417,C19orf18,ZNF606,VN2R19P,ZSCAN1,ZSCAN18,ZNF329,ZNF544,ZNF8,ERVK3-1,ZNF497,ZNF837,RPS5,ZNF584,ZNF324,ZNF446,SLC27A5,RN7SL693P,ZBTB45,UBE2M,MZF1-AS1,MZF1,RDH13,PTPRH,BRSK1,EPN1,NLRP11,NLRP4,NLRP8,ZNF787,ZSCAN5A,ZNF667-AS1,OR5AH1P,ZNF460-AS1,ZNF549,ZNF550,ZNF586,ZNF418,ZNF135,ZNF274,ZSCAN22,CENPBD1P1,ZNF71,ZSCAN4
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300110
 qPCR
 
 De novo
 
 
 SYT5,TMEM86B,MIR6804,MIR6802,MIR6803,COX6B2,IL11,TMEM238,MIR6805,UBE2S,SHISA7,C19orf85,ZNF628,NAT14,SBK2,ZNF579,FIZ1,ZNF524,CCDC106,RN7SKP109,RFPL4A,RFPL4AP1,PPP6R1,HSPBP1,TMEM150B,KMT5C,FAM71E2,TMEM190,RPL28,ISOC2,SSC5D,SBK3,ZNF865,ZNF784,ZNF580,ZNF581,U2AF2,NLRP9,RFPL4AL1,PTPRH,BRSK1,EPN1,NLRP11,NLRP4
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown83
 
 
 De novo
 Unknown
 Unknown
 NCR1,MIR7975,TNNI3,SYT5,TMEM86B,MIR6804,MIR6802,MIR6803,COX6B2,IL11,TMEM238,MIR6805,UBE2S,SHISA7,C19orf85,ZNF628,NAT14,SBK2,ZNF579,FIZ1,ZNF524,CCDC106,RN7SKP109,RFPL4A,RFPL4AP1,NLRP7,NLRP2,GP6,EPS8L1,PPP1R12C,TNNT1,DNAAF3,PPP6R1,HSPBP1,TMEM150B,KMT5C,FAM71E2,TMEM190,RPL28,ISOC2,SSC5D,SBK3,ZNF865,ZNF784,ZNF580,ZNF581,U2AF2,NLRP9,RFPL4AL1,RDH13,PTPRH,BRSK1,EPN1,NLRP11,NLRP4
 
 wang_20_ID_discovery_cases-case12
 
 
 Unknown
 Unknown
 Unknown
 MIR643,DPPA5P1,RPL39P34,ERVV-1,NDUFV2P1,VN1R2,VN1R4,FAM90A27P,BIRC8,FAM90A28P,VN1R6P,RPL39P36,ZNF761,TPM3P6,RN7SL317P,DPRX,RNU6-698P,MIR512-1,MIR512-2,MIR1323,MIR498,MIR520E,MIR515-1,MIR519E,MIR520F,MIR515-2,MIR519C,MIR1283-1,MIR520A,MIR526B,MIR519B,MIR525,MIR523,MIR518F,MIR520B,MIR518B,MIR526A1,MIR520C,MIR518C,MIR524,MIR517A,MIR519D,MIR521-2,RNU6-803P,MIR520D,MIR517B,MIR520G,MIR516B2,MIR526A2,MIR518E,MIR518A1,RNU6-980P,MIR518D,MIR516B1,MIR518A2,MIR517C,MIR520H,RNU6-982P,MIR521-1,RNU6-751P,MIR522,MIR519A1,MIR527,MIR516A1,MIR1283-2,RNU6-1041P,MIR516A2,MIR519A2,RNU6-165P,HMGN1P32,SEPTIN7P8,MIR371A,MIR371B,MIR372,MIR373,MYADM-AS1,MIR935,TARM1,NDUFA3,TFPT,LENG1,TSEN34,LILRB3,LILRA6,LILRB5,RNU6-1307P,MIR4752,VN1R104P,LILRA4,LENG8-AS1,LENG9,CDC42EP5,LILRA1,LILRB1-AS1,MIR8061,VN1R105P,LILRP1,LILRP2,KIR3DL3,RNU6-222P,NCR1,MIR7975,TNNI3,SYT5,TMEM86B,MIR6804,MIR6802,MIR6803,COX6B2,IL11,TMEM238,MIR6805,UBE2S,SHISA7,C19orf85,ZNF628,NAT14,SBK2,ZNF579,FIZ1,ZNF524,CCDC106,RN7SKP109,RFPL4A,RFPL4AP1,LINC01864,ZSCAN5C,VN2R17P,SLC25A36P1,SIGLEC31P,ZNF835,OR5AH1P,MIMT1,ZIM3,AURKC,ZNF460,ZNF304,TRAPPC2B,ZNF17,VN1R1,VN1R107P,TPRG1LP1,ZNF552,FKBP1AP1,ZNF256,LETM1P2,HNRNPDLP4,RN7SL526P,RPS15AP36,MIR6806,A1BG,A1BG-AS1,RNA5SP473,MIR4754,RNF225,LINC02560,ZNF132,ZNF324B,RNU6-1337P,RN7SL525P,TRIM28,MIR6807,CHMP2A,ZNF766,ZNF610,ZNF880,ZNF528-AS1,ZNF528,ZNF534,ZNF578,ZNF137P,ZNF83,ZNF611,ZNF600,ZNF468,ZNF320,ZNF888,ZNF321P,ZNF702P,ERVV-2,ZNF415,ZNF347,ZNF665,ZNF677,ZNF525,ZNF765,TPM3P9,ZNF331,NLRP12,PRKCG,CACNG7,CACNG8,VSTM1,OSCAR,PRPF31,CNOT3,TMC4,MBOAT7,RPS9,LILRB2,LILRA5,LAIR1,TTYH1,LENG8,LAIR2,KIR3DX1,LILRA2,LILRB1,KIR2DL3,KIR2DP1,KIR2DL1,KIR2DL4,KIR3DL1,KIR2DS4,KIR3DL2,FCAR,NLRP7,NLRP2,GP6,EPS8L1,PPP1R12C,TNNT1,DNAAF3,PPP6R1,HSPBP1,TMEM150B,KMT5C,FAM71E2,TMEM190,RPL28,ISOC2,SSC5D,SBK3,ZNF865,ZNF784,ZNF580,ZNF581,U2AF2,NLRP9,RFPL4AL1,NLRP13,NLRP5,ZNF444,GALP,ZSCAN5B,ZSCAN5DP,EDDM13,ZNF542P,ZNF582,ZNF582-AS1,ZNF583,ZNF667,ZNF471,ZFP28,ZNF470,SMIM17,ZIM2,PEG3,RPL7AP69,USP29,DUXA,ZNF264,ZNF805,ZNF543,ZNF547,ZNF548,ZNF749,ZNF772,ZNF419,ZNF773,ZNF416,ZIK1,ZNF530,ZNF134,ZNF211,ZNF551,ZNF154,ZNF671,ZNF776,ZNF587B,ZNF814,ZNF587,ZNF417,C19orf18,ZNF606,VN2R19P,ZSCAN1,ZSCAN18,ZNF329,ZNF544,ZNF8,ERVK3-1,ZNF497,ZNF837,RPS5,ZNF584,ZNF324,ZNF446,SLC27A5,RN7SL693P,ZBTB45,UBE2M,MZF1-AS1,MZF1,ZNF480,ZNF808,ZNF701,ZNF28,ZNF816-ZNF321P,ZNF816,ZNF160,ZNF845,MYADM,CACNG6,LILRB4,KIR3DP1,RDH13,PTPRH,BRSK1,EPN1,NLRP11,NLRP4,NLRP8,ZNF787,ZSCAN5A,ZNF667-AS1,ZNF460-AS1,ZNF549,ZNF550,ZNF586,ZNF418,ZNF135,ZNF274,ZSCAN22,CENPBD1P1,ZNF813,ZNF71,ZIM2-AS1,ZSCAN4
 
 yin_16_ASD_discovery_cases-case572
 
 
 Unknown
 Unknown
 Unknown
 NCR1,MIR7975,TNNI3,SYT5,TMEM86B,MIR6804,MIR6802,MIR6803,COX6B2,IL11,TMEM238,MIR6805,UBE2S,SHISA7,C19orf85,ZNF628,NAT14,SBK2,ZNF579,FIZ1,ZNF524,CCDC106,RN7SKP109,RFPL4A,RFPL4AP1,LINC01864,ZSCAN5C,NLRP7,NLRP2,GP6,EPS8L1,PPP1R12C,TNNT1,DNAAF3,PPP6R1,HSPBP1,TMEM150B,KMT5C,FAM71E2,TMEM190,RPL28,ISOC2,SSC5D,SBK3,ZNF865,ZNF784,ZNF580,ZNF581,U2AF2,NLRP9,RFPL4AL1,NLRP13,NLRP5,ZNF444,GALP,ZSCAN5B,RDH13,PTPRH,BRSK1,EPN1,NLRP11,NLRP4,NLRP8,ZNF787
 
 yin_16_ASD_discovery_cases-case573
 
 
 Unknown
 Unknown
 Unknown
 NCR1,MIR7975,TNNI3,SYT5,TMEM86B,MIR6804,MIR6802,MIR6803,COX6B2,IL11,TMEM238,MIR6805,UBE2S,SHISA7,C19orf85,ZNF628,NAT14,SBK2,ZNF579,FIZ1,ZNF524,CCDC106,RN7SKP109,RFPL4A,RFPL4AP1,LINC01864,ZSCAN5C,NLRP7,NLRP2,GP6,EPS8L1,PPP1R12C,TNNT1,DNAAF3,PPP6R1,HSPBP1,TMEM150B,KMT5C,FAM71E2,TMEM190,RPL28,ISOC2,SSC5D,SBK3,ZNF865,ZNF784,ZNF580,ZNF581,U2AF2,NLRP9,RFPL4AL1,NLRP13,NLRP5,ZNF444,GALP,ZSCAN5B,RDH13,PTPRH,BRSK1,EPN1,NLRP11,NLRP4,NLRP8,ZNF787
 
 yin_16_ASD_discovery_cases-case574
 
 
 Unknown
 Unknown
 Unknown
 NCR1,MIR7975,TNNI3,SYT5,TMEM86B,MIR6804,MIR6802,MIR6803,COX6B2,IL11,TMEM238,MIR6805,UBE2S,SHISA7,C19orf85,ZNF628,NAT14,SBK2,ZNF579,FIZ1,ZNF524,CCDC106,RN7SKP109,RFPL4A,RFPL4AP1,LINC01864,ZSCAN5C,NLRP7,NLRP2,GP6,EPS8L1,PPP1R12C,TNNT1,DNAAF3,PPP6R1,HSPBP1,TMEM150B,KMT5C,FAM71E2,TMEM190,RPL28,ISOC2,SSC5D,SBK3,ZNF865,ZNF784,ZNF580,ZNF581,U2AF2,NLRP9,RFPL4AL1,NLRP13,NLRP5,ZNF444,GALP,ZSCAN5B,RDH13,PTPRH,BRSK1,EPN1,NLRP11,NLRP4,NLRP8,ZNF787
 
 yin_16_ASD_discovery_cases-case575
 
 
 Unknown
 Unknown
 Unknown
 NCR1,MIR7975,TNNI3,SYT5,TMEM86B,MIR6804,MIR6802,MIR6803,COX6B2,IL11,TMEM238,MIR6805,UBE2S,SHISA7,C19orf85,ZNF628,NAT14,SBK2,ZNF579,FIZ1,ZNF524,CCDC106,RN7SKP109,RFPL4A,RFPL4AP1,LINC01864,ZSCAN5C,NLRP7,NLRP2,GP6,EPS8L1,PPP1R12C,TNNT1,DNAAF3,PPP6R1,HSPBP1,TMEM150B,KMT5C,FAM71E2,TMEM190,RPL28,ISOC2,SSC5D,SBK3,ZNF865,ZNF784,ZNF580,ZNF581,U2AF2,NLRP9,RFPL4AL1,NLRP13,NLRP5,ZNF444,GALP,ZSCAN5B,RDH13,PTPRH,BRSK1,EPN1,NLRP11,NLRP4,NLRP8,ZNF787
 

Controls

No Control Data Available
No Animal Model Data Available
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