10q21.3-q22.1CNV Type: Duplication
Largest CNV size: 6963067 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A de novo 10q21.3-q22.1 duplication was identified by whole-genome sequencing in an ASD proband from the REACH cohort (Brandler et al., 2018).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Paternally inherited cis-regulatory structural variants are associated with autism.
Duplication
Autism risk in offspring can be assessed through quantification of male sperm mosaicism.
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
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
6963067
0
1
1
breuss_19_ASD_discovery_cases
ASD probands from the REACH cohort and from a cohort of ASD probands with an additional diagnosis of epilepsy (NYU Medical School)
20
Diagnosis of ASD (autism was assessed by a clinical psychologist using the Autism Diagnostic Interview-Revised, the Autism Diagnostic Observation Schedule and the Childhood Autism Rating Scale).
N/A
N/A
6963068
0
1
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
breuss_19_ASD_discovery_cases
N/A
WGS
Illumina HiSeq
ForestSV, Lumpy, Mobster
SAMtools v.1.2, GATK v.3.3, Picard Tools v.1.129
PCR, ddPCR
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
brandler_18_ASD_discovery_cases-caseMT_182.3
N/A
M
ASD
Case from REACH cohort
65421217
72384284
6963068
GRCh38
Duplication
Yes
breuss_19_ASD_discovery_cases-caseF20_II-1
N/A
N/A
ASD
Diagnosis of ASD (autism was assessed by a clinical psychologist using the Autism Diagnostic Interview-Revised, the Autism Diagnostic Observation Schedule and the Childhood Autism Rating Scale).
65421217
72384284
6963068
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
brandler_18_ASD_discovery_cases-caseMT_182.3
SNP VCF
De novo
RPL7AP51,MIR7151,AKR1B10P1,RPL21P92,RNU6-1250P,RN7SL394P,DNAJC19P1,RNU6-523P,RPL12P8,RN7SL220P,POU5F1P5,RN7SKP202,ATOH7,KRT19P4,RPL26P29,RNA5SP319,RPL26P27,TMEM14DP,RPS3AP37,SNORD98,RNU6-697P,RNU6-571P,MED28P1,ACTBP14,RPS12P17,RPS15AP28,TACR2,ATP5MC1P7,TMEM256P1,NEUROG3,MTATP6P23,MTCO2P23,MTCO1P23,MTND2P15,MTND1P20,CALM2P2,RPS25P9,CEP57L1P1,YY1P1,RPS26P40,PCBD1,UNC5B-AS1,CDH23-AS1,MIR7152,RNU7-38P,RPL15P14,DDIT4,DDIT4-AS1,DNAJC12,RPS3AP38,HNRNPH3,RUFY2,SLC25A16,COX20P1,CCAR1,STOX1,DDX21,KIF1BP,SRGN,VPS26A,HKDC1,FAM241B,RPL5P26,H2AFY2,TYSND1,SAR1A,PPA1,LRRC20,EIF4EBP2,NODAL,PRF1,ADAMTS14,SGPL1,UNC5B,SLC29A3,C10orf105,VSIR,CHST3,SPOCK2,ASCC1,LINC01515,LRRTM3,SIRT1,HERC4,PBLD,DNA2,TET1,DDX50,HK1,TSPAN15,COL13A1,AIFM2,PALD1,TBATA,CDH23,PSAP,ANAPC16,MICU1,MYPN,SUPV3L1,NPFFR1,DNAJB12,CTNNA3
breuss_19_ASD_discovery_cases-caseF20_II-1
PCR, ddPCR
De novo
RPL7AP51,MIR7151,AKR1B10P1,RPL21P92,RNU6-1250P,RN7SL394P,DNAJC19P1,RNU6-523P,RPL12P8,RN7SL220P,POU5F1P5,RN7SKP202,ATOH7,KRT19P4,RPL26P29,RNA5SP319,RPL26P27,TMEM14DP,RPS3AP37,SNORD98,RNU6-697P,RNU6-571P,MED28P1,ACTBP14,RPS12P17,RPS15AP28,TACR2,ATP5MC1P7,TMEM256P1,NEUROG3,MTATP6P23,MTCO2P23,MTCO1P23,MTND2P15,MTND1P20,LINC02651,CALM2P2,RPS25P9,CEP57L1P1,YY1P1,RPS26P40,PCBD1,UNC5B-AS1,CDH23-AS1,MIR7152,RNU7-38P,RPL15P14,DDIT4,DDIT4-AS1,DNAJC12,RPS3AP38,LINC02640,HNRNPH3,RUFY2,SLC25A16,COX20P1,CCAR1,STOX1,DDX21,KIFBP,SRGN,VPS26A,HKDC1,FAM241B,RPL5P26,LINC02636,MACROH2A2,TYSND1,SAR1A,PPA1,LRRC20,EIF4EBP2,NODAL,PRF1,ADAMTS14,SGPL1,LINC02622,UNC5B,SLC29A3,C10orf105,VSIR,CHST3,SPOCK2,ASCC1,LINC01515,LRRTM3,SIRT1,HERC4,PBLD,DNA2,TET1,DDX50,HK1,TSPAN15,COL13A1,AIFM2,PALD1,TBATA,CDH23,PSAP,ANAPC16,MICU1,MYPN,SUPV3L1,NPFFR1,DNAJB12,CTNNA3
Controls
No Control Data Available
No Animal Model Data Available