18p11.32-p11.22CNV Type: Deletion
Largest CNV size: 9600000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Summary statement in development
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
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
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
10405064
3
0
3
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
9600000
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
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
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-ISCA00002081
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
112259
9135777
9023519
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004026
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
148963
8572827
8423865
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004317
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
131700
10536767
10405068
GRCh38
Deletion
Yes
tzetis_12_DD/ID_discovery_cases-case75
M
DD/ID
Cleft palate, hypertelorism, agenesis of corpus callosum, ventricular septal defect, seizures, dyslexia, behavioral problems
14316
9630730
9616415
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-ISCA00002081
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR8078,LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,ROCK1P1,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,MYOM1,DLGAP1,LINC00667,L3MBTL4,PTPRM
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004026
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MYOM1,DLGAP1,LINC00667,L3MBTL4,PTPRM
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004317
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,PTPRM
tzetis_12_DD/ID_discovery_cases-case75
De novo
Unknown
LINC02564,MIR8078,LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,TUBB8P12,IL9RP4,ROCK1P1,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,MYOM1,DLGAP1,LINC00667,L3MBTL4,PTPRM
Controls
No Control Data Available
No Animal Model Data Available