Description

CB-Gene launched chromosome copy number variation (microdeletion/microduplication): common microdeletion and microduplication syndrome types, such as DGS, AS, 1p36del, etc. These products use gDNA from human cell lines as raw materials to simulate real clinical samples, and can monitor the sample extraction, library preparation and sequencing process quality control of non-invasive prenatal testing (NIPT) kits. It is suitable for the detection of cell-free DNA (cfDNA) in peripheral blood of pregnant women using the whole genome method (massive-parallel sequencing MPS).

General information

Product Information	Trisomy 9 (47,XY,+9, Gain 9p24.3p13.1) Reference Standard
Cat No.	CBPJ0003
Format	Genomic DNA
Intended Use	Research Use Only
Unit Size	1ug
Sanger sequencing	Download
Storage	2-8°C
Expiry	36 months from the date of manufacture

Technical Data

Mutation	Trisomy 9
Karyotype	47,XY,+9, Gain 9p24.3p13.1
Chromosome (GRCh37) abnormal region (CMA)	chr9:208,455-38,787,480
Mutation type	Gain
Length (bp)	38579026
ACMG mutation classification	Pathogenicity

Representative Data

Z-Score：

chr	Z-Score	chr	Z-Score
chr1	0.67	chr12	-2.09
chr2	-4.42	chr13	-3.63
chr3	-1.28	chr14	-1.34
chr4	-4.42	chr15	-2.95
chr5	-2.72	chr16	-2.3
chr6	-1.85	chr17	2.24
chr7	-0.62	chr18	-5.85
chr8	-4.16	chr19	3.49
chr9	46.63	chr20	-1.25
chr10	-4.96	chr21	-1.91
chr11	-0.17	chr22	1.6

CBPJ0003

Chromosome simulated karyotype diagram:

CBPJ0003-2

Related Products List

Catalog No.	Name	Mutation	Karyotype	Download
CBPJ0006	Angelman syndrome (46,XX,del(15)(q11q13)) Reference Standard	Angelman syndrome	46,XX,del(15)(q11q13)	CBPJ0006 COA Download：CBPJ0006 CGFA23032004
CBPJ0007	Prader-Willi syndrome (46,XY,del(15)(q11.2q13)) Reference Standard	Prader-Willi syndrome	46,XY,del(15)(q11.2q13)	CBPJ0007 COA Download：CBPJ0007 CBFA23081405
CBPJ0008	18P-syndrome (46,XX,del(18)(p11.2)) Reference Standard	18P-syndrome	46,XX,del(18)(p11.2)	CBPJ0008 COA Download：CBPJ0008 CBFA23082406
CBPJ0011	DiGeorge syndrome (46,XX,del(22)(q11)) Reference Standard	DiGeorge syndrome	46,XX,del(22)(q11)	CBPJ0011
CBPJ0013	18Q-syndrome (46,XX,del(18)(q22)) Reference Standard	18Q-syndrome	46,XX,del(18)(q22)	CBPJ0013 COA Download：CBPJ0013 CBFA23122102
CBPJ0015	11q23.3 del (46,XX,del(11)(q23.3)) Reference Standard	Chromosome deletion	del(11)(q23.3)	CBPJ0015 COA Download：CBPJ0015 CBFA23120811
CBPJ0017	Angelman syndrome (46,XY,del(15)(q11.2q13.1)) Reference Standard	Angelman syndrome	46,XY,del(15)(q11.2q13.1)	CBPJ0017 COA Download：CBPJ0017 CBFA23090509
CBPJ0018	Prader-Willi syndrome (46,XY,del(15)(q11.2q13.1)) Reference Standard	Prader-Willi syndrome	46,XY,del(15)(q11.2q13.1)	CBPJ0018 COA Download：CBPJ0018 CBFA24102106

General information

Product Information	Trisomy 9 (47,XY,+9, Gain 9p24.3p13.1) Reference Standard
Cat No.	CBPJ0003
Format	Genomic DNA
Intended Use	Research Use Only
Unit Size	1ug
Sanger sequencing	Download
Storage	2-8°C
Expiry	36 months from the date of manufacture

Technical Data

Mutation	Trisomy 9
Karyotype	47,XY,+9, Gain 9p24.3p13.1
Chromosome (GRCh37) abnormal region (CMA)	chr9:208,455-38,787,480
Mutation type	Gain
Length (bp)	38579026
ACMG mutation classification	Pathogenicity

Representative Data

Z-Score：

chr	Z-Score	chr	Z-Score
chr1	0.67	chr12	-2.09
chr2	-4.42	chr13	-3.63
chr3	-1.28	chr14	-1.34
chr4	-4.42	chr15	-2.95
chr5	-2.72	chr16	-2.3
chr6	-1.85	chr17	2.24
chr7	-0.62	chr18	-5.85
chr8	-4.16	chr19	3.49
chr9	46.63	chr20	-1.25
chr10	-4.96	chr21	-1.91
chr11	-0.17	chr22	1.6

CBPJ0003

Chromosome simulated karyotype diagram:

CBPJ0003-2

Related Products List

Catalog No.	Name	Mutation	Karyotype	Download
CBPJ0006	Angelman syndrome (46,XX,del(15)(q11q13)) Reference Standard	Angelman syndrome	46,XX,del(15)(q11q13)	CBPJ0006 COA Download：CBPJ0006 CGFA23032004
CBPJ0007	Prader-Willi syndrome (46,XY,del(15)(q11.2q13)) Reference Standard	Prader-Willi syndrome	46,XY,del(15)(q11.2q13)	CBPJ0007 COA Download：CBPJ0007 CBFA23081405
CBPJ0008	18P-syndrome (46,XX,del(18)(p11.2)) Reference Standard	18P-syndrome	46,XX,del(18)(p11.2)	CBPJ0008 COA Download：CBPJ0008 CBFA23082406
CBPJ0011	DiGeorge syndrome (46,XX,del(22)(q11)) Reference Standard	DiGeorge syndrome	46,XX,del(22)(q11)	CBPJ0011
CBPJ0013	18Q-syndrome (46,XX,del(18)(q22)) Reference Standard	18Q-syndrome	46,XX,del(18)(q22)	CBPJ0013 COA Download：CBPJ0013 CBFA23122102
CBPJ0015	11q23.3 del (46,XX,del(11)(q23.3)) Reference Standard	Chromosome deletion	del(11)(q23.3)	CBPJ0015 COA Download：CBPJ0015 CBFA23120811
CBPJ0017	Angelman syndrome (46,XY,del(15)(q11.2q13.1)) Reference Standard	Angelman syndrome	46,XY,del(15)(q11.2q13.1)	CBPJ0017 COA Download：CBPJ0017 CBFA23090509
CBPJ0018	Prader-Willi syndrome (46,XY,del(15)(q11.2q13.1)) Reference Standard	Prader-Willi syndrome	46,XY,del(15)(q11.2q13.1)	CBPJ0018 COA Download：CBPJ0018 CBFA24102106

Microdeletion and microduplication standards

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