1p36.22-p36.13CNV Type: Deletion
Largest CNV size: 6115371 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Deletions within this region were identified in three cases 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
Title
Author, Year
Report Class
CNV Type
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
6115371
3
0
3
mahjani_21_ASD_discovery_cases
Study participants in the PAGES cohort, a large ongoing population-based cohort study in Sweden that started in 2012 with the overall aim to identify possible genetic and environmental risk factors for ASD.
996
Cases diagnosed with ASD according to ICD-9 and ICD-10 criteria.
Average age at diagnosis, 8.2 yrs.
70% Male
6905080
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
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
mahjani_21_ASD_discovery_cases
Sweden
WES
Infinium OmniExpress Exome
PennCNV
NA
None
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001758
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
11121625
16324498
5202874
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002264
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
10621776
16520709
5898934
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002616
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
10809039
16422500
5613462
GRCh38
Deletion
Yes
mahjani_21_ASD_discovery_cases-case243
NA
M
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
9773276
16678355
6905080
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001758
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MTOR-AS1,RNU6-537P,RNU6-291P,RPL39P6,UBE2V2P3,MTCYBP45,LINC01647,FBXO44,NPPA,NPPB,RNU5E-1,RNU5E-4P,KIAA2013,MIR6729,RN7SL649P,RNU6-777P,RPL23AP89,MIR7846,MIR4632,RPL10P17,SNORA59A,RNU6ATAC18P,MIR6730,AADACL3,PRAMEF12,LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF28P,PRAMEF27,HNRNPCL3,PRAMEF34P,PRAMEF35P,HNRNPCL2,PRAMEF36P,PRAMEF26,HNRNPCL4,PRAMEF13,PRAMEF18,PRAMEF31P,PRAMEF32P,RNU6-771P,PRAMEF8,PRAMEF14,PRAMEF17,BRWD1P1,RNA5SP41,RNU6-1265P,TBCAP2,C1orf195,CTRC,SCARNA21B,CHCHD2P6,RNU7-179P,CD24P1,RSC1A1,SLC25A34,RPL12P14,UQCRHL,HSPB7,ARHGEF19-AS1,MT1XP1,ANGPTL7,UBIAD1,FBXO2,MAD2L2,DRAXIN,AGTRAP,C1orf167,CLCN6,PLOD1,MFN2,MIIP,TNFRSF8,AADACL4,C1orf158,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6,PRAMEF25,PRAMEF9,PRAMEF5,PRAMEF33,PRAMEF15,PRAMEF20,PDPN,KAZN-AS1,TMEM51-AS1,EFHD2,CASP9,DNAJC16,AGMAT,DDI2,SLC25A34-AS1,TMEM82,FBLIM1,FLJ37453,ZBTB17,SRARP,CLCNKA,CLCNKB,FAM131C,EPHA2,ARHGEF19,ANO7L1,CPLANE2,MTOR,FBXO6,MTHFR,TNFRSF1B,VPS13D,PRAMEF19,LRRC38,PRDM2,TMEM51,FHAD1,CELA2A,CELA2B,SPEN,TBC1D3P6,FBXO42,DISP3,DHRS3,KAZN,PLEKHM2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002264
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HSPE1P24,CFL1P6,TARDBP,MTOR-AS1,RNU6-537P,RNU6-291P,RPL39P6,UBE2V2P3,MTCYBP45,LINC01647,FBXO44,NPPA,NPPB,RNU5E-1,RNU5E-4P,KIAA2013,MIR6729,RN7SL649P,RNU6-777P,RPL23AP89,MIR7846,MIR4632,RPL10P17,SNORA59A,RNU6ATAC18P,MIR6730,AADACL3,PRAMEF12,LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF28P,PRAMEF27,HNRNPCL3,PRAMEF34P,PRAMEF35P,HNRNPCL2,PRAMEF36P,PRAMEF26,HNRNPCL4,PRAMEF13,PRAMEF18,PRAMEF31P,PRAMEF32P,RNU6-771P,PRAMEF8,PRAMEF14,PRAMEF17,BRWD1P1,RNA5SP41,RNU6-1265P,TBCAP2,C1orf195,CTRC,SCARNA21B,CHCHD2P6,RNU7-179P,CD24P1,RSC1A1,SLC25A34,RPL12P14,UQCRHL,HSPB7,ARHGEF19-AS1,MT1XP1,RPL22P3,RNU1-1,C1orf127,MASP2,SRM,EXOSC10,ANGPTL7,UBIAD1,FBXO2,MAD2L2,DRAXIN,AGTRAP,C1orf167,CLCN6,PLOD1,MFN2,MIIP,TNFRSF8,AADACL4,C1orf158,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6,PRAMEF25,PRAMEF9,PRAMEF5,PRAMEF33,PRAMEF15,PRAMEF20,PDPN,KAZN-AS1,TMEM51-AS1,EFHD2,CASP9,DNAJC16,AGMAT,DDI2,SLC25A34-AS1,TMEM82,FBLIM1,FLJ37453,ZBTB17,SRARP,CLCNKA,CLCNKB,FAM131C,EPHA2,ARHGEF19,ANO7L1,CPLANE2,SPATA21,NECAP2,LINC01772,CROCCP3,CASZ1,MTOR,FBXO6,MTHFR,TNFRSF1B,VPS13D,PRAMEF19,LRRC38,PRDM2,TMEM51,FHAD1,CELA2A,CELA2B,SPEN,TBC1D3P6,FBXO42,SZRD1,PEX14,DISP3,DHRS3,KAZN,PLEKHM2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002616
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HSPE1P24,CFL1P6,TARDBP,MTOR-AS1,RNU6-537P,RNU6-291P,RPL39P6,UBE2V2P3,MTCYBP45,LINC01647,FBXO44,NPPA,NPPB,RNU5E-1,RNU5E-4P,KIAA2013,MIR6729,RN7SL649P,RNU6-777P,RPL23AP89,MIR7846,MIR4632,RPL10P17,SNORA59A,RNU6ATAC18P,MIR6730,AADACL3,PRAMEF12,LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF28P,PRAMEF27,HNRNPCL3,PRAMEF34P,PRAMEF35P,HNRNPCL2,PRAMEF36P,PRAMEF26,HNRNPCL4,PRAMEF13,PRAMEF18,PRAMEF31P,PRAMEF32P,RNU6-771P,PRAMEF8,PRAMEF14,PRAMEF17,BRWD1P1,RNA5SP41,RNU6-1265P,TBCAP2,C1orf195,CTRC,SCARNA21B,CHCHD2P6,RNU7-179P,CD24P1,RSC1A1,SLC25A34,RPL12P14,UQCRHL,HSPB7,ARHGEF19-AS1,MT1XP1,RPL22P3,C1orf127,MASP2,SRM,EXOSC10,ANGPTL7,UBIAD1,FBXO2,MAD2L2,DRAXIN,AGTRAP,C1orf167,CLCN6,PLOD1,MFN2,MIIP,TNFRSF8,AADACL4,C1orf158,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6,PRAMEF25,PRAMEF9,PRAMEF5,PRAMEF33,PRAMEF15,PRAMEF20,PDPN,KAZN-AS1,TMEM51-AS1,EFHD2,CASP9,DNAJC16,AGMAT,DDI2,SLC25A34-AS1,TMEM82,FBLIM1,FLJ37453,ZBTB17,SRARP,CLCNKA,CLCNKB,FAM131C,EPHA2,ARHGEF19,ANO7L1,CPLANE2,SPATA21,MTOR,FBXO6,MTHFR,TNFRSF1B,VPS13D,PRAMEF19,LRRC38,PRDM2,TMEM51,FHAD1,CELA2A,CELA2B,SPEN,TBC1D3P6,FBXO42,SZRD1,DISP3,DHRS3,KAZN,PLEKHM2
mahjani_21_ASD_discovery_cases-case243
Unknown
CASP9,TNFRSF8,CD24P1,CLCNKB,CLCNKA,CLCN6,EPHA2,CORT,DFFA,RNU1-3,RNU1-1,FBXO6,RNU5E-1,HSPB7,UBIAD1,CELA2B,CASZ1,VPS13D,FBXO42,NECAP2,FBLIM1,TMEM51,NBPF1,AGTRAP,DISP3,CTNNBIP1,CELA2A,CPLANE2,AGMAT,MIIP,PRAMEF1,EFHD2,PRAMEF2,NMNAT1,LZIC,DDI2,KIAA2013,FBXO44,CROCCP2,AADACL3,CROCCP3,RBP7,FHAD1,LRRC38,ARHGEF19,C1orf127,SRARP,TMEM51-AS1,MTOR,SLC25A34,C1orf167,HNRNPCL1,AADACL4,PRAMEF10,PRAMEF5,PRAMEF9,FAM131C,DRAXIN,SPATA21,TMEM82,CENPS,PRAMEF12,PRAMEF4,PRAMEF18,SBF1P2,PRAMEF8,PRAMEF17,PRAMEF13,RPL10P17,CFL1P6,PRAMEF6,UQCRHL,PRAMEF25,PRAMEF11,HNRNPCL2,PRAMEF7,PRAMEF30P,TBCAP2,MT1XP1,CHCHD2P6,HNRNPCL3,PRAMEF33,PRAMEF19,PRAMEF26,PRAMEF34P,PRAMEF20,PRAMEF36P,SNORA59A,TMEM51-AS2,PRAMEF32P,PRAMEF15,PRAMEF14,RPL22P3,RPL12P14,PRAMEF29P,PRAMEF31P,NPPB,MTHFR,NPPA,LINC01783,RPL39P6,PRAMEF35P,ZBTB2P1,PDE4DIPP8,PGAM1P11,MFFP1,UBE2V2P3,CENPS-CORT,RNA5SP41,MIR5697,MIR4632,RNU5E-4P,MTOR-AS1,ARHGEF19-AS1,HNRNPCL4,FHAD1-AS1,ANO7L1,PLOD1,RSC1A1,PEX14,EXOSC10,PGD,LINC01647,TBC1D3P6,MIR6729,MIR6730,PRAMEF27,MIR7846,C1orf167-AS1,PRAMEF28P,EXOSC10-AS1,KAZN-AS1,LINC02766,LINC01784,RNU6-37P,RNU7-179P,SRM,TNFRSF1B,RNU6-291P,RNU1-6P,RNU6-537P,RNU6-828P,HSPE1P24,RNU6-771P,MZT1P1,RNU6ATAC18P,RPL23AP89,RNU6-1072P,RN7SKP269,RN7SL614P,RN7SL649P,RN7SL731P,BRWD1P1,RNU6-777P,RNU6-1265P,SCARNA21B,LINC01772,MTCYBP45,SLC25A34-AS1,ZBTB17,PRDM2,TMEM274P,ANGPTL7,MFN2,DHRS3,UBE4B,MAD2L2,CLSTN1,CTRC,MST1P2,PDPN,MASP2,DNAJC16,PLEKHM2,KAZN,TARDBP,SZRD1,KIF1B,FBXO2,SPEN
Controls
No Control Data Available
No Animal Model Data Available