Yq11.1-q12CNV Type: Duplication
Largest CNV size: 15624999 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo Yq11.1-q12 duplication was observed in an ASD proband from the Autism Simplex Collection (Yuen et al., 2017).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
15624999
0
1
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
None (CNV validation not available, CNV not detected by validation method, or CNV not detected by WGS but was detected by validation methodology)
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
yuen_17_ASD_discovery_cases-case2-1379-003
N/A
N/A
ASD
Case cohort: The Autism Simplex Collection . Clinical description: N/A
11038325
26672853
15634529
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
yuen_17_ASD_discovery_cases-case2-1379-003
Not detected
De novo
Simplex
Segregated
C2orf27AP1,ANKRD20A6P,SNX18P1Y,DUX4L16,DUX4L17,DUX4L18,DUX4L19,PABPC1P5,ACTR3BP1,MTND1P12,RCC2P1,ASS1P6,RPS24P1,RN7SL702P,FAM8A4P,ARSEP1,SHROOM2P1,CDY4P,DPPA2P1,PSMA6P1,TMSB4Y,VCY,VCY1B,PNPLA4P1,AGKP1,MED13P1,CYCSP46,RNU6-109P,RNU6-184P,SURF6P1,ELOCP35,TUBB1P2,RNA5SP520,RNA5SP521,CLUHP1,CDY5P,ACTG1P2,USP9YP23,USP9YP27,RNU1-128P,TRAPPC2P3,OFD1P1Y,ELOCP6,CDY2B,CDY6P,USP9YP7,USP9YP6,CDY7P,USP9YP32,CDY2A,ELOCP12,TRAPPC2P8,USP9YP15,RNU1-95P,USP9YP16,XKRY2,ACTG1P11,ELOCP26,CDY9P,TAF9P2,RNA5SP522,RNA5SP523,TUBB1P1,ELOCP13,RNU1-48P,USP9YP5,XKRYP1,PRYP5,ELOCP7,USP9YP1,GPM6BP1,TTTY9B,RAB9AP4,TRAPPC2P7,GPM6BP2,USP9YP2,ELOCP14,PRYP6,XKRYP2,USP9YP10,USP9YP28,RNU1-41P,MTCYBP2,ZNF839P1,CD24P4,RNU6-255P,GAPDHP19,RCC2P2,ZNF885P,KDM5DP1,HSFY4P,GAPDHP17,TMEM167AP1,TOMM22P1,NEFLP1,PRORY,RBMY2TP,FAM197Y10,TSPY14P,ELOCP5,CDY10P,USP9YP3,USP9YP8,CDY11P,OFD1P16Y,RBMY2AP,HSFY5P,CDY12P,ELOCP15,TTTY6B,RBMY1F,RBMY1KP,TSPY22P,TSPY21P,TTTY6,ELOCP8,CDY13P,USP9YP24,HSFY7P,RBMY2BP,RBMY2WP,TTTY17A,ZNF736P11Y,TRIM60P8Y,ZNF736P3Y,TRIM60P9Y,REREP1Y,USP9YP18,ELOCP16,USP9YP25,RNU1-97P,RAB9AP1,TRAPPC2P9,ELOCP9,CDY15P,XKRYP4,USP9YP12,RNU1-86P,RAB9AP5,ELOCP10,CDY1B,CDY17P,USP9YP35,CDY18P,GOLGA6L11P,CSPG4P2Y,CSPG4P3Y,RN7SL818P,UBE2Q2P4Y,LINC00265-2P,RBMY2XP,TTTY17B,TRIM60P5Y,ZNF736P12Y,TRIM60P10Y,ZNF736P2Y,TRIM60P11Y,ZNF736P5Y,ZNF736P4Y,TTTY17C,RBMY2YP,CICP1,LINC00265-3P,UBE2Q2P5Y,GOLGA2P3Y,RN7SL725P,CSPG4P4Y,CSPG4P1Y,DNM1P48,GOLGA6L16P,CDY19P,USP9YP36,CDY20P,ELOCP34,TRAPPC2P5,RAB9AP2,USP9YP30,RNU1-107P,TTTY3,USP9YP9,USP9YP19,XKRYP5,CDY22P,ELOCP17,TRAPPC2P4,RAB9AP3,USP9YP20,RNU1-40P,ELOCP11,CDY23P,USP9YP26,HSFY8P,REREP2Y,RNU6-1314P,CYCSP48,CYCSP49,CCNQP2,SLC9B1P1,MXRA5Y,ARSFP1,ARSDP1,GYG2P1,MED14P1,TTTY15,DDX3Y,CASKP1,SFPQP1,TAB3P1,NLGN4Y-AS1,PUDPP1,STSP1,FAM41AY1,TAF9P1,PRYP1,XKRY,USP9YP34,CDY8P,PRYP2,CLUHP2,FAM41AY2,OFD1P4Y,HSFY1,OFD1P6Y,OFD1P7Y,BCORP1,TXLNGY,KDM5D,ZNF886P,TTTY10,TBL1YP1,RPS4Y2,RBMY2EP,RBMY1B,RBMY1A1,TTTY13,RBMY1E,OFD1P8Y,USP9YP17,PRY2,TSPY23P,RBMY2UP,TTTY5,RBMY2FP,TTTY25P,PRY,OFD1P9Y,BPY2,DAZ1,DAZ2,PPP1R12BP2,RBMY2CP,HSFY6P,CDY14P,PRYP3,USP9YP29,OFD1P11Y,USP9YP13,USP9YP11,TTTY3B,TRAPPC2P10,USP9YP31,DNM1P24,GOLGA2P2Y,CICP2,LINC00266-2P,TTTY4B,BPY2B,ZNF736P1Y,TTTY4C,LINC00266-4P,USP9YP33,CDY1,OFD1P18Y,USP9YP21,PRYP4,RBMY2DP,ANKRD36P1,TPTE2P4,SLC25A15P1,XGY1,USP9Y,UTY,ANOS2P,FAM224B,OFD1P2Y,FAM224A,USP9YP14,OFD1P5Y,HSFY2,EIF1AY,RBMY1HP,RBMY1D,RBMY1J,TTTY4,OFD1P10Y,XKRYP3,OFD1P12Y,DAZ3,DAZ4,BPY2C,OFD1P13Y,XKRYP6,OFD1P15Y,PPP1R12BP1,PARP4P1,NLGN4Y,TTTY14
Controls
No Control Data Available
No Animal Model Data Available