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Xq22.1-q23CNV Type: Deletion-Duplication


Largest CNV size: 11000000 bp

Statistics Box:
Number of Reports: 1



Summary Information

CNVs within this region were found to be signficantly enriched in cases with developmental delay, intellectual disability, and other neurodevelopmental disorders (including ASD), compared to controls (Girirajan et al., 2012).

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion-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
 girirajan_12_ASD/DD/ID_discovery_cases
 Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
 32587
 Developmental delay with or without congenital malformations
 
 
 11000000
 3
 6
 9

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 11000000
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 girirajan_12_ASD/DD/ID_discovery_cases
 
 aCGH
  BACs aCGH, SignatureChipOS
 
 
 FISH, aCGH, or confirmation by inheritance

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  girirajan_12_ASD/DD/ID_discovery_controls
 
  aCGH
  BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
 
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  girirajan_12_ASD/DD/ID_discovery_cases-case2226
 NA
 NA
 Developmental delay
 NA
 NA
 103158416
 114170527
  11012112
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case2227
 NA
 NA
 Developmental delay
 NA
 NA
 103158416
 114170527
  11012112
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case2228
 NA
 NA
 Developmental delay
 NA
 NA
 103158416
 114170527
  11012112
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case2229
 NA
 NA
 Developmental delay
 NA
 NA
 103158416
 114170527
  11012112
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case2230
 NA
 NA
 Developmental delay
 NA
 NA
 103158416
 114170527
  11012112
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case2231
 NA
 NA
 Developmental delay
 NA
 NA
 103158416
 114170527
  11012112
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case2232
 NA
 NA
 Developmental delay
 NA
 NA
 103158416
 114170527
  11012112
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case2233
 NA
 NA
 Developmental delay
 NA
 NA
 103158416
 114170527
  11012112
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case2234
 NA
 NA
 Developmental delay
 NA
 NA
 103158416
 114170527
  11012112
 GRCh38
 Duplication
 NA

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 girirajan_12_ASD/DD/ID_discovery_cases-case2226
 NA
 
 Unknown
 Unknown
 Unknown
 RPSAP59,BEX4,TCEAL8,TCEAL5,BEX2,TCEAL7,TCEAL9,BEX3,TCEAL3-AS1,MORF4L2-AS1,TMEM31,RNA5SP511,TMSB15B-AS1,DPPA3P1,H2BFWT,H2BFM,ZCCHC18,PHBP10,RPL18AP14,TEX13A,KCTD9P2,RNU6-207P,NAP1L4P2,SERPINA7P1,MIR548AN,RIPPLY1,EEF1A1P40,MYCLP1,DNAJA1P3,KRT18P49,NLRP3P1,TEX13B,IRS4,RNU6-309P,KCNE5,RPS5P7,MIR652,MIR3978,SNORD96B,AMMECR1-IT1,GNG5P2,TDGF1P3,FCF1P4,RNU6-496P,HMGB1P12,SERTM2,EIF4BP7,RPL18AP15,RNA5SP512,ALG13-AS1,DPRXP7,RTL4,HMGB3P30,MIR4329,RN7SL266P,RNU6-1015P,QTRT1P1,RNU1-57P,RN7SL93P,RAB40A,TCEAL4,TCEAL3,TCEAL1,GLRA4,PLP1,RAB9B,SLC25A53,FAM199X,ESX1,RNF128,CLDN2,NUP62CL,FRMPD3-AS1,FRMPD3,PRPS1,NCBP2L,VSIG1,PSMD10,NXT2,GLUD1P9,CAPN6,TRPC5OS,LHFPL1,AMOT,MORF4L2,TMSB15B,SERPINA7,TBC1D8B,RBM41,PIH1D3,TSC22D3,MID2,ATG4A,COL4A6,COL4A5,GUCY2F,ACSL4,AMMECR1,RTL9,CHRDL1,DCX,ALG13,TRPC5,XACT,IL1RAPL2,NRK,MORC4,TMEM164,PAK3
 
 girirajan_12_ASD/DD/ID_discovery_cases-case2227
 NA
 
 Unknown
 Unknown
 Unknown
 RPSAP59,BEX4,TCEAL8,TCEAL5,BEX2,TCEAL7,TCEAL9,BEX3,TCEAL3-AS1,MORF4L2-AS1,TMEM31,RNA5SP511,TMSB15B-AS1,DPPA3P1,H2BFWT,H2BFM,ZCCHC18,PHBP10,RPL18AP14,TEX13A,KCTD9P2,RNU6-207P,NAP1L4P2,SERPINA7P1,MIR548AN,RIPPLY1,EEF1A1P40,MYCLP1,DNAJA1P3,KRT18P49,NLRP3P1,TEX13B,IRS4,RNU6-309P,KCNE5,RPS5P7,MIR652,MIR3978,SNORD96B,AMMECR1-IT1,GNG5P2,TDGF1P3,FCF1P4,RNU6-496P,HMGB1P12,SERTM2,EIF4BP7,RPL18AP15,RNA5SP512,ALG13-AS1,DPRXP7,RTL4,HMGB3P30,MIR4329,RN7SL266P,RNU6-1015P,QTRT1P1,RNU1-57P,RN7SL93P,RAB40A,TCEAL4,TCEAL3,TCEAL1,GLRA4,PLP1,RAB9B,SLC25A53,FAM199X,ESX1,RNF128,CLDN2,NUP62CL,FRMPD3-AS1,FRMPD3,PRPS1,NCBP2L,VSIG1,PSMD10,NXT2,GLUD1P9,CAPN6,TRPC5OS,LHFPL1,AMOT,MORF4L2,TMSB15B,SERPINA7,TBC1D8B,RBM41,PIH1D3,TSC22D3,MID2,ATG4A,COL4A6,COL4A5,GUCY2F,ACSL4,AMMECR1,RTL9,CHRDL1,DCX,ALG13,TRPC5,XACT,IL1RAPL2,NRK,MORC4,TMEM164,PAK3
 
 girirajan_12_ASD/DD/ID_discovery_cases-case2228
 NA
 
 Unknown
 Unknown
 Unknown
 RPSAP59,BEX4,TCEAL8,TCEAL5,BEX2,TCEAL7,TCEAL9,BEX3,TCEAL3-AS1,MORF4L2-AS1,TMEM31,RNA5SP511,TMSB15B-AS1,DPPA3P1,H2BFWT,H2BFM,ZCCHC18,PHBP10,RPL18AP14,TEX13A,KCTD9P2,RNU6-207P,NAP1L4P2,SERPINA7P1,MIR548AN,RIPPLY1,EEF1A1P40,MYCLP1,DNAJA1P3,KRT18P49,NLRP3P1,TEX13B,IRS4,RNU6-309P,KCNE5,RPS5P7,MIR652,MIR3978,SNORD96B,AMMECR1-IT1,GNG5P2,TDGF1P3,FCF1P4,RNU6-496P,HMGB1P12,SERTM2,EIF4BP7,RPL18AP15,RNA5SP512,ALG13-AS1,DPRXP7,RTL4,HMGB3P30,MIR4329,RN7SL266P,RNU6-1015P,QTRT1P1,RNU1-57P,RN7SL93P,RAB40A,TCEAL4,TCEAL3,TCEAL1,GLRA4,PLP1,RAB9B,SLC25A53,FAM199X,ESX1,RNF128,CLDN2,NUP62CL,FRMPD3-AS1,FRMPD3,PRPS1,NCBP2L,VSIG1,PSMD10,NXT2,GLUD1P9,CAPN6,TRPC5OS,LHFPL1,AMOT,MORF4L2,TMSB15B,SERPINA7,TBC1D8B,RBM41,PIH1D3,TSC22D3,MID2,ATG4A,COL4A6,COL4A5,GUCY2F,ACSL4,AMMECR1,RTL9,CHRDL1,DCX,ALG13,TRPC5,XACT,IL1RAPL2,NRK,MORC4,TMEM164,PAK3
 
 girirajan_12_ASD/DD/ID_discovery_cases-case2229
 NA
 
 Unknown
 Unknown
 Unknown
 RPSAP59,BEX4,TCEAL8,TCEAL5,BEX2,TCEAL7,TCEAL9,BEX3,TCEAL3-AS1,MORF4L2-AS1,TMEM31,RNA5SP511,TMSB15B-AS1,DPPA3P1,H2BFWT,H2BFM,ZCCHC18,PHBP10,RPL18AP14,TEX13A,KCTD9P2,RNU6-207P,NAP1L4P2,SERPINA7P1,MIR548AN,RIPPLY1,EEF1A1P40,MYCLP1,DNAJA1P3,KRT18P49,NLRP3P1,TEX13B,IRS4,RNU6-309P,KCNE5,RPS5P7,MIR652,MIR3978,SNORD96B,AMMECR1-IT1,GNG5P2,TDGF1P3,FCF1P4,RNU6-496P,HMGB1P12,SERTM2,EIF4BP7,RPL18AP15,RNA5SP512,ALG13-AS1,DPRXP7,RTL4,HMGB3P30,MIR4329,RN7SL266P,RNU6-1015P,QTRT1P1,RNU1-57P,RN7SL93P,RAB40A,TCEAL4,TCEAL3,TCEAL1,GLRA4,PLP1,RAB9B,SLC25A53,FAM199X,ESX1,RNF128,CLDN2,NUP62CL,FRMPD3-AS1,FRMPD3,PRPS1,NCBP2L,VSIG1,PSMD10,NXT2,GLUD1P9,CAPN6,TRPC5OS,LHFPL1,AMOT,MORF4L2,TMSB15B,SERPINA7,TBC1D8B,RBM41,PIH1D3,TSC22D3,MID2,ATG4A,COL4A6,COL4A5,GUCY2F,ACSL4,AMMECR1,RTL9,CHRDL1,DCX,ALG13,TRPC5,XACT,IL1RAPL2,NRK,MORC4,TMEM164,PAK3
 
 girirajan_12_ASD/DD/ID_discovery_cases-case2230
 NA
 
 Unknown
 Unknown
 Unknown
 RPSAP59,BEX4,TCEAL8,TCEAL5,BEX2,TCEAL7,TCEAL9,BEX3,TCEAL3-AS1,MORF4L2-AS1,TMEM31,RNA5SP511,TMSB15B-AS1,DPPA3P1,H2BFWT,H2BFM,ZCCHC18,PHBP10,RPL18AP14,TEX13A,KCTD9P2,RNU6-207P,NAP1L4P2,SERPINA7P1,MIR548AN,RIPPLY1,EEF1A1P40,MYCLP1,DNAJA1P3,KRT18P49,NLRP3P1,TEX13B,IRS4,RNU6-309P,KCNE5,RPS5P7,MIR652,MIR3978,SNORD96B,AMMECR1-IT1,GNG5P2,TDGF1P3,FCF1P4,RNU6-496P,HMGB1P12,SERTM2,EIF4BP7,RPL18AP15,RNA5SP512,ALG13-AS1,DPRXP7,RTL4,HMGB3P30,MIR4329,RN7SL266P,RNU6-1015P,QTRT1P1,RNU1-57P,RN7SL93P,RAB40A,TCEAL4,TCEAL3,TCEAL1,GLRA4,PLP1,RAB9B,SLC25A53,FAM199X,ESX1,RNF128,CLDN2,NUP62CL,FRMPD3-AS1,FRMPD3,PRPS1,NCBP2L,VSIG1,PSMD10,NXT2,GLUD1P9,CAPN6,TRPC5OS,LHFPL1,AMOT,MORF4L2,TMSB15B,SERPINA7,TBC1D8B,RBM41,PIH1D3,TSC22D3,MID2,ATG4A,COL4A6,COL4A5,GUCY2F,ACSL4,AMMECR1,RTL9,CHRDL1,DCX,ALG13,TRPC5,XACT,IL1RAPL2,NRK,MORC4,TMEM164,PAK3
 
 girirajan_12_ASD/DD/ID_discovery_cases-case2231
 NA
 
 Unknown
 Unknown
 Unknown
 RPSAP59,BEX4,TCEAL8,TCEAL5,BEX2,TCEAL7,TCEAL9,BEX3,TCEAL3-AS1,MORF4L2-AS1,TMEM31,RNA5SP511,TMSB15B-AS1,DPPA3P1,H2BFWT,H2BFM,ZCCHC18,PHBP10,RPL18AP14,TEX13A,KCTD9P2,RNU6-207P,NAP1L4P2,SERPINA7P1,MIR548AN,RIPPLY1,EEF1A1P40,MYCLP1,DNAJA1P3,KRT18P49,NLRP3P1,TEX13B,IRS4,RNU6-309P,KCNE5,RPS5P7,MIR652,MIR3978,SNORD96B,AMMECR1-IT1,GNG5P2,TDGF1P3,FCF1P4,RNU6-496P,HMGB1P12,SERTM2,EIF4BP7,RPL18AP15,RNA5SP512,ALG13-AS1,DPRXP7,RTL4,HMGB3P30,MIR4329,RN7SL266P,RNU6-1015P,QTRT1P1,RNU1-57P,RN7SL93P,RAB40A,TCEAL4,TCEAL3,TCEAL1,GLRA4,PLP1,RAB9B,SLC25A53,FAM199X,ESX1,RNF128,CLDN2,NUP62CL,FRMPD3-AS1,FRMPD3,PRPS1,NCBP2L,VSIG1,PSMD10,NXT2,GLUD1P9,CAPN6,TRPC5OS,LHFPL1,AMOT,MORF4L2,TMSB15B,SERPINA7,TBC1D8B,RBM41,PIH1D3,TSC22D3,MID2,ATG4A,COL4A6,COL4A5,GUCY2F,ACSL4,AMMECR1,RTL9,CHRDL1,DCX,ALG13,TRPC5,XACT,IL1RAPL2,NRK,MORC4,TMEM164,PAK3
 
 girirajan_12_ASD/DD/ID_discovery_cases-case2232
 NA
 
 Unknown
 Unknown
 Unknown
 RPSAP59,BEX4,TCEAL8,TCEAL5,BEX2,TCEAL7,TCEAL9,BEX3,TCEAL3-AS1,MORF4L2-AS1,TMEM31,RNA5SP511,TMSB15B-AS1,DPPA3P1,H2BFWT,H2BFM,ZCCHC18,PHBP10,RPL18AP14,TEX13A,KCTD9P2,RNU6-207P,NAP1L4P2,SERPINA7P1,MIR548AN,RIPPLY1,EEF1A1P40,MYCLP1,DNAJA1P3,KRT18P49,NLRP3P1,TEX13B,IRS4,RNU6-309P,KCNE5,RPS5P7,MIR652,MIR3978,SNORD96B,AMMECR1-IT1,GNG5P2,TDGF1P3,FCF1P4,RNU6-496P,HMGB1P12,SERTM2,EIF4BP7,RPL18AP15,RNA5SP512,ALG13-AS1,DPRXP7,RTL4,HMGB3P30,MIR4329,RN7SL266P,RNU6-1015P,QTRT1P1,RNU1-57P,RN7SL93P,RAB40A,TCEAL4,TCEAL3,TCEAL1,GLRA4,PLP1,RAB9B,SLC25A53,FAM199X,ESX1,RNF128,CLDN2,NUP62CL,FRMPD3-AS1,FRMPD3,PRPS1,NCBP2L,VSIG1,PSMD10,NXT2,GLUD1P9,CAPN6,TRPC5OS,LHFPL1,AMOT,MORF4L2,TMSB15B,SERPINA7,TBC1D8B,RBM41,PIH1D3,TSC22D3,MID2,ATG4A,COL4A6,COL4A5,GUCY2F,ACSL4,AMMECR1,RTL9,CHRDL1,DCX,ALG13,TRPC5,XACT,IL1RAPL2,NRK,MORC4,TMEM164,PAK3
 
 girirajan_12_ASD/DD/ID_discovery_cases-case2233
 NA
 
 Unknown
 Unknown
 Unknown
 RPSAP59,BEX4,TCEAL8,TCEAL5,BEX2,TCEAL7,TCEAL9,BEX3,TCEAL3-AS1,MORF4L2-AS1,TMEM31,RNA5SP511,TMSB15B-AS1,DPPA3P1,H2BFWT,H2BFM,ZCCHC18,PHBP10,RPL18AP14,TEX13A,KCTD9P2,RNU6-207P,NAP1L4P2,SERPINA7P1,MIR548AN,RIPPLY1,EEF1A1P40,MYCLP1,DNAJA1P3,KRT18P49,NLRP3P1,TEX13B,IRS4,RNU6-309P,KCNE5,RPS5P7,MIR652,MIR3978,SNORD96B,AMMECR1-IT1,GNG5P2,TDGF1P3,FCF1P4,RNU6-496P,HMGB1P12,SERTM2,EIF4BP7,RPL18AP15,RNA5SP512,ALG13-AS1,DPRXP7,RTL4,HMGB3P30,MIR4329,RN7SL266P,RNU6-1015P,QTRT1P1,RNU1-57P,RN7SL93P,RAB40A,TCEAL4,TCEAL3,TCEAL1,GLRA4,PLP1,RAB9B,SLC25A53,FAM199X,ESX1,RNF128,CLDN2,NUP62CL,FRMPD3-AS1,FRMPD3,PRPS1,NCBP2L,VSIG1,PSMD10,NXT2,GLUD1P9,CAPN6,TRPC5OS,LHFPL1,AMOT,MORF4L2,TMSB15B,SERPINA7,TBC1D8B,RBM41,PIH1D3,TSC22D3,MID2,ATG4A,COL4A6,COL4A5,GUCY2F,ACSL4,AMMECR1,RTL9,CHRDL1,DCX,ALG13,TRPC5,XACT,IL1RAPL2,NRK,MORC4,TMEM164,PAK3
 
 girirajan_12_ASD/DD/ID_discovery_cases-case2234
 NA
 
 Unknown
 Unknown
 Unknown
 RPSAP59,BEX4,TCEAL8,TCEAL5,BEX2,TCEAL7,TCEAL9,BEX3,TCEAL3-AS1,MORF4L2-AS1,TMEM31,RNA5SP511,TMSB15B-AS1,DPPA3P1,H2BFWT,H2BFM,ZCCHC18,PHBP10,RPL18AP14,TEX13A,KCTD9P2,RNU6-207P,NAP1L4P2,SERPINA7P1,MIR548AN,RIPPLY1,EEF1A1P40,MYCLP1,DNAJA1P3,KRT18P49,NLRP3P1,TEX13B,IRS4,RNU6-309P,KCNE5,RPS5P7,MIR652,MIR3978,SNORD96B,AMMECR1-IT1,GNG5P2,TDGF1P3,FCF1P4,RNU6-496P,HMGB1P12,SERTM2,EIF4BP7,RPL18AP15,RNA5SP512,ALG13-AS1,DPRXP7,RTL4,HMGB3P30,MIR4329,RN7SL266P,RNU6-1015P,QTRT1P1,RNU1-57P,RN7SL93P,RAB40A,TCEAL4,TCEAL3,TCEAL1,GLRA4,PLP1,RAB9B,SLC25A53,FAM199X,ESX1,RNF128,CLDN2,NUP62CL,FRMPD3-AS1,FRMPD3,PRPS1,NCBP2L,VSIG1,PSMD10,NXT2,GLUD1P9,CAPN6,TRPC5OS,LHFPL1,AMOT,MORF4L2,TMSB15B,SERPINA7,TBC1D8B,RBM41,PIH1D3,TSC22D3,MID2,ATG4A,COL4A6,COL4A5,GUCY2F,ACSL4,AMMECR1,RTL9,CHRDL1,DCX,ALG13,TRPC5,XACT,IL1RAPL2,NRK,MORC4,TMEM164,PAK3
 

Controls

No Control Data Available
No Animal Model Data Available
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