Xq26.3-q28CNV Type: Deletion
Largest CNV size: 19037527 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Rare singleton deletion within this region was found in a case from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
19860748
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
19037527
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
chaves_19_ASD/DD/ID_discovery_cases-case116
N/A
M
Developmental delay
Low weight, abnormal growth, prematurity, congenital anomalies, developmental delay, facial dysmorphism and microcephaly. Karyotype: 46, XY, add(22q).
136142686
156003433
19860748
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001691
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
136956500
156020993
19064494
GRCh38
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chaves_19_ASD/DD/ID_discovery_cases-case116
Unknown
BRS3,MIR934,RNU6-320P,LINC00892,RNU6-972P,RPL7P56,RANP4,RAB28P5,SNORD61,RPL22P23,SRRM1P3,GPR101,RAC1P4,RN7SL325P,ZFYVE9P1,RNU6-985P,RN7SKP31,MAGEA13P,KRT8P6,H2AQ1P,MIR504,FGF13-AS1,SRD5A1P1,RNU6ATAC23P,MIR505,CXorf66,HNRNPA3P3,RN7SL727P,RPS17P17,SOX3,CDR1,MIR320D2,SPANXB1,RNU6-3P,SPANXC,SPANXA1,SPANXD,MAGEC1,MAGEC2,RNA5SP516,RN7SKP81,RN7SKP149,PGBD4P6,MTND1P33,MTND2P39,SPANXN3,SLITRK4,HNRNPH1P2,RRM2P4,HNRNPCP10,RN7SKP189,CYCSP44,SPANXN1,SLITRK2,MIR892C,MIR890,MIR888,MIR892A,MIR892B,MIR891B,MIR891A,RNA5SP517,CXorf51B,CXorf51A,MIR513C,MIR513B,MIR513A1,MIR513A2,MIR506,MIR507,MIR508,MIR514B,MIR509-2,MIR509-3,MIR509-1,MIR510,MIR514A1,MIR514A2,MIR514A3,RNU6-382P,FMR1-AS1,RNA5SP524,FTH1P8,RPL7L1P11,AFF2-IT1,RN7SKP267,IDSP1,HSFX3,HSFX2,TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MIR2114,XRCC6P2,PPIAP91,RNU6-383P,HMGB3,RPL19P21,RPL12P50,RNA5SP525,MIR4330,GPR50-AS1,GPR50,FATE1,CNGA2,MAGEA4,MIR224,MIR452,RPSAP60,MAGEA5,MAGEA10,RNU6-764P,MIR105-1,MIR767,MIR105-2,KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,MAP7D3,STK24P1,HTATSF1,VGLL1,CD40LG,RBMX,ZIC3,SNURFL,F9,RBMX2P2,SPANXA2,MAGEC3,SPANXN4,SPANXN2,UBE2NL,ELL2P4,FMR1,FMR1-IT1,FMR1NB,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11,MAGEA9,LINC00850,MAGEA8-AS1,HSFX4,VMA21,PRRG3,GABRE,MAGEA10-MAGEA5,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,IL9R,FHL1,ARHGEF6,FGF13,MCF2,ATP11C,LINC00632,LDOC1,MAMLD1,MTM1,MTMR1,CD99L2,PASD1,MAGEA4-AS1,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE,ADGRG4,SPANXA2-OT1,AFF2,LINC00894
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001691
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SRRM1P3,GPR101,RAC1P4,RN7SL325P,ZFYVE9P1,RNU6-985P,RN7SKP31,MAGEA13P,KRT8P6,MIR504,FGF13-AS1,SRD5A1P1,RNU6ATAC23P,MIR505,CXorf66,HNRNPA3P3,RN7SL727P,RPS17P17,SOX3,CDR1,MIR320D2,SPANXB1,RNU6-3P,LDOC1,SPANXC,SPANXA1,SPANXD,MAGEC1,MAGEC2,RNA5SP516,RN7SKP81,RN7SKP149,PGBD4P6,MTND1P33,MTND2P39,SPANXN3,SLITRK4,HNRNPH1P2,RRM2P4,HNRNPCP10,RN7SKP189,CYCSP44,SPANXN1,SLITRK2,MIR892C,MIR890,MIR888,MIR892A,MIR892B,MIR891B,MIR891A,RNA5SP517,CXorf51B,CXorf51A,MIR513C,MIR513B,MIR513A1,MIR513A2,MIR506,MIR507,MIR508,MIR514B,MIR509-2,MIR509-3,MIR509-1,MIR510,MIR514A1,MIR514A2,MIR514A3,RNU6-382P,FMR1-AS1,RNA5SP524,FTH1P8,RPL7L1P11,AFF2-IT1,RN7SKP267,IDSP1,CXorf40A,HSFX3,HSFX2,TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MIR2114,XRCC6P2,PPIAP91,RNU6-383P,HMGB3,RPL19P21,RPL12P50,RNA5SP525,MIR4330,GPR50-AS1,GPR50,FATE1,CNGA2,MAGEA4,MIR224,MIR452,RPSAP60,MAGEA5,MAGEA10,RNU6-764P,MIR105-1,MIR767,MIR105-2,KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,WASIR1,ZIC3,SNURFL,F9,RBMX2P2,SPANXA2,MAGEC3,SPANXN4,SPANXN2,UBE2NL,ELL2P4,FMR1,FMR1-IT1,FMR1NB,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11,MAGEA9,LINC00850,MAGEA8-AS1,CXorf40B,HSFX4,VMA21,PRRG3,GABRE,MAGEA10-MAGEA5,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,IL9R,WASH6P,FGF13,MCF2,ATP11C,LINC00632,MAMLD1,MTM1,MTMR1,CD99L2,PASD1,MAGEA4-AS1,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE,SPANXA2-OT1,AFF2,LINC00894
Controls
No Control Data Available
No Animal Model Data Available