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Yq11.1-q12CNV Type: Duplication


Largest CNV size: 15624999 bp

Statistics Box:
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

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USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

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
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