6p21.1CNV Type: Deletion-Duplication
Largest CNV size: 165374 bp
Statistics Box:
Number of Reports: 12
Number of Reports: 12
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-Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
asadollahi_14_NDD_discovery_cases
Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
714
Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
N/A
N/A
236000
0
1
1
beunders_13_DD/ID/ASD_discovery_cases
Individuals from ten diagnostic centers in the Netherlands, Belgium, Great Britian, the United States, and Canada
49684
Intellectual disability and/or mulitple congenital anomalies
NA
NA
87669
0
1
1
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
5080
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
57791
1
0
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
2221985
1
1
2
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
74740
1
1
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
3523
2
0
2
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
31138
0
1
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
335000
0
1
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
11914
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
165374
3
2
5
xu_16_ASD/DD/ID_discovery_cases
Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
115
66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
Range, 18 months-15.1 years (mean age, 5.7 years)
72.17% Male
123000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
beunders_13_DD/ID/ASD_discovery_controls
Control cohort comprised of Ottawa Heart Institute (OHI) controls from Canada (n=1234), POPGEN controls from Germany (n=1123), SAGE controls from the United States (n=1287), Welcome Trust (WTCCC) controls (n=4783), HapMap Phase 3 controls (n=1056), Lowlands Consortium controls (n=981), and a combined adult controls set (HGDP, NINDS, and others; n=6239)
16784
Control
NA
NA
87669
NA
NA
NA
brandler_18_ASD_replication_controls
Unaffected individuals from the Simons Simplex 2 (SSC2) cohort (584 controls from simplex quad families)
584
Control (unaffected siblings from simplex quad families)
N/A
N/A
5080
1
0
1
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
232777
2
1
3
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
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
8204
3
1
4
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
22493
1
2
3
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
0
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
39111
2
0
2
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
asadollahi_14_NDD_discovery_cases
Predominantly European
Array SNP
Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
HMM
Affymetrix ChAS v.1.0.1
MLPA
beunders_13_DD/ID/ASD_discovery_cases
NA
aCGH, array SNP, solid phase hybridization
Multiple platforms including Agilent 105K/180K/244K, custom Roche Nimblegen 135K, Affymetrix 2.7M/6.0, Illumina Omni 2.5M, SignatureChipOS v2.0, & BlueGnome CytoChip ISCA 60K
None
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
xu_16_ASD/DD/ID_discovery_cases
N/A
aCGH, array SNP
BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
Affymeytrix Genotyping Console v3.0.2
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
beunders_13_DD/ID/ASD_discovery_controls
NA
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Illumina 240K-650K, Agilent 105K/185K
brandler_18_ASD_replication_controls
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
asadollahi_14_NDD_discovery_cases-case60045
N/A
M
NDD
Case with unspecified neurodevelopmental disorder
42072050
42307839
235790
GRCh38
Duplication
Yes
beunders_13_DD/ID/ASD_discovery_cases-case30
NA
M
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
42086470
42174139
87670
GRCh38
Duplication
No
brandler_18_ASD_replication_cases-caseSSC04826
N/A
M
ASD
Case from SSC_phase2 cohort
43528882
43533962
5081
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8531_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
40816931
40874722
57792
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000979
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
42368558
44590544
2221987
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004767
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
42133625
44106194
1972570
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case12467.p1
N/A
M
ASD
ASD proband from SSC quad family 12467. SRS score of 70.
Full-scale IQ (FSIQ) score of 102.
43528827
43534007
5181
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case12743.p1
N/A
M
ASD
ASD proband from SSC quad family 12743. SRS score of 78.
Full-scale IQ (FSIQ) score of 116.
41276124
41350864
74741
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case12467.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
43528949
43531575
2627
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14152.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
44306922
44310445
3524
GRCh38
Deletion
Yes
mosca_16_DCD_discovery_cases-case124803
N/A
M
DCD (with or without ADHD and/or RD)
Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
44005108
44036245
31138
GRCh38
Duplication
No
nava_13_ASD_discovery_cases-Fam820Proband9980
N/A
M
ASD
Additional clinical profile info N/A
ID
43440267
43775504
335238
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0671A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU033403; NDAR ID NDAR_INVFP134WLL)
44248628
44260541
11914
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11196.p1
12.1
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 117; verbal IQ, 106
44500152
44505117
4966
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11569.p1
9.1
F
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 45
42911551
42923284
11734
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12451.p1
9.6
M
ASD
NA
Full-scale IQ, 75; non-verbal IQ, 77; verbal IQ, 77
45031912
45071023
39112
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12695.p1
12.3
M
Autism
NA
Full-scale IQ, 49; non-verbal IQ, 56; verbal IQ, 35
40561063
40640509
79447
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12743.p1
10.1
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 114; verbal IQ, 108
41256216
41421590
165375
GRCh38
Duplication
No
xu_16_ASD/DD/ID_discovery_cases-case24
N/A
N/A
Developmental delay
Primary diagnosis of developmental delay based on DQ scores.
44892930
45016113
123184
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_replication_controls-controlSSC04836
N/A
F
control
Control from SSC_phase2 cohort
43528882
43533962
5081
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036024602_
N/A
N/A
Control
No previous psychiatric history
42071834
42304611
232778
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900055_900055
N/A
N/A
Control
No previous psychiatric history
44967604
45014856
47253
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902488_902488
N/A
N/A
Control
No previous psychiatric history
40816931
40876263
59333
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control12467.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12467. SRS score of 47.
43528158
43534007
5850
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_controls-control12637.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12637. SRS score of 40.
42916069
42924273
8205
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_controls-control13335.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13335. SRS score of 36.
41741795
41742489
695
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_controls-control13825.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13825. SRS score of 71.
43635875
43636646
772
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control12637.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
42916069
42924273
8205
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13825.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
43635875
43645325
9451
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14425.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
42962211
42984704
22494
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-12637.s1
5
M
Control (matched sibling)
NA
NA
42911551
42925096
13546
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12637.s1
5
M
Control (matched sibling)
NA
NA
45031912
45071023
39112
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
asadollahi_14_NDD_discovery_cases-case60045
MLPA
Maternal
Unknown
Unknown
MRPS10,C6orf132,GUCA1A,GUCA1B,TAF8,TRERF1
beunders_13_DD/ID/ASD_discovery_cases-case30
Maternal
Unknown
Unknown
C6orf132,GUCA1A,TAF8
brandler_18_ASD_replication_cases-caseSSC04826
No validation step reported
Maternal
XPO5,POLR1C
engchuan_15_ASD_discovery_cases-case8531_201
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000979
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-890P,ATP6V0CP3,RPL7L1,C6orf226,PTCRA,CNPY3,RPL24P4,GNMT,MEA1,KLHDC3,RN7SL403P,DNPH1,RPL12P47,RPS2P28,MIR6780B,RNU6-1113P,LRRC73,POLH-AS1,LINC02537,C6orf223,RN7SL811P,MYMX,SLC35B2,MIR4647,NFKBIE,MIR4642,PRPH2,TBCC,PEX6,RRP36,CUL7,KLC4,MRPL2,SRF,CUL9,SLC22A7,CRIP3,ZNF318,ABCC10,DLK2,TJAP1,XPO5,POLH,GTPBP2,MAD2L1BP,MRPS18A,MRPL14,TMEM63B,SLC29A1,HSP90AB1,TCTE1,SPATS1,TRERF1,UBR2,BICRAL,PTK7,TTBK1,POLR1C,YIPF3,RSPH9,VEGFA,CAPN11,TMEM151B,AARS2,CDC5L,PPP2R5D
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004767
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MRPS10,RNU6-890P,ATP6V0CP3,RPL7L1,C6orf226,PTCRA,CNPY3,RPL24P4,GNMT,MEA1,KLHDC3,RN7SL403P,DNPH1,RPL12P47,RPS2P28,MIR6780B,RNU6-1113P,LRRC73,POLH-AS1,LINC02537,C6orf223,C6orf132,GUCA1A,GUCA1B,PRPH2,TBCC,PEX6,RRP36,CUL7,KLC4,MRPL2,SRF,CUL9,SLC22A7,CRIP3,ZNF318,ABCC10,DLK2,TJAP1,XPO5,POLH,GTPBP2,MAD2L1BP,MRPS18A,TRERF1,UBR2,BICRAL,PTK7,TTBK1,POLR1C,YIPF3,RSPH9,VEGFA,PPP2R5D
krumm_13_ASD_discovery_cases-case12467.p1
Maternal
Simplex
Not segregated
XPO5,POLR1C
krumm_13_ASD_discovery_cases-case12743.p1
Maternal
Simplex
Segregated
RNU6-643P,TREM1,NCR2
krumm_15_ASD_discovery_cases-case12467.p1
1M-Duov3
Maternal
Simplex
Segregated
XPO5,POLR1C
krumm_15_ASD_discovery_cases-case14152.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
TMEM151B,AARS2
mosca_16_DCD_discovery_cases-case124803
Unknown
Unknown
Unknown
C6orf223
nava_13_ASD_discovery_cases-Fam820Proband9980
Maternal
Simplex
Unknown
RNU6-1113P,LRRC73,POLH-AS1,ABCC10,DLK2,TJAP1,XPO5,POLH,GTPBP2,MAD2L1BP,MRPS18A,POLR1C,YIPF3,RSPH9,VEGFA
poultney_13_ASD_discovery_cases-case99HI0671A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SLC35B2,MIR4647,NFKBIE,HSP90AB1
sanders_11_ASD_discovery_cases-11196.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11569.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PTCRA
sanders_11_ASD_discovery_cases-12451.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SUPT3H
sanders_11_ASD_discovery_cases-12695.p1
Maternal
Simplex (quad-proband matched)
Segregated
LRFN2
sanders_11_ASD_discovery_cases-12743.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU6-643P,TREM1,NCR2
xu_16_ASD/DD/ID_discovery_cases-case24
Maternal
NUDT19P4,SUPT3H
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_controls-controlSSC04836
No validation step reported
Maternal
XPO5,POLR1C
engchuan_15_ASD_discovery_controls-control110036024602_
Unknown
MRPS10,C6orf132,GUCA1A,GUCA1B,TAF8,TRERF1
engchuan_15_ASD_discovery_controls-controlHABC_900055_900055
Unknown
SUPT3H
engchuan_15_ASD_discovery_controls-controlHABC_902488_902488
Unknown
krumm_13_ASD_discovery_controls-control12467.s1
Maternal
Simplex
XPO5,POLR1C
krumm_13_ASD_discovery_controls-control12637.s1
Paternal
Simplex
PTCRA
krumm_13_ASD_discovery_controls-control13335.s1
Maternal
Simplex
PGC
krumm_13_ASD_discovery_controls-control13825.s1
Paternal
Simplex
MAD2L1BP
krumm_15_ASD_discovery_controls-control12637.s1
Illumina 1MDuo
Paternal
PTCRA
krumm_15_ASD_discovery_controls-control13825.s1
Omni2.5-4v1
Paternal
MAD2L1BP,RSPH9
krumm_15_ASD_discovery_controls-control14425.s1
Omni2.5-4v1
Paternal
GNMT,PEX6,PPP2R5D
sanders_11_ASD_discovery_controls-12637.s1
Paternal
Simplex (quad)
NA
PTCRA
sanders_11_ASD_discovery_controls-12637.s1
Paternal
Simplex (quad)
NA
SUPT3H
No Animal Model Data Available