nstd143 - Shang et al 2017 - dbVar Study

nstd143 (Shang et al. 2017)

Organism:: Human
Study Type:: Collection
Submitter:: Jianmei Zhong
Description:: We identified a group of additional genetic determinants contributing to disease, which provided an accurate molecular diagnosis for the patients with ß-thalassemia. Molecular screening test report the diagnostic mutations undetected using routine methods, including pathogenic copy-number variations (CNV) and some variants. Based on the data observed from the 22,260 individuals, we revealed surprisingly high carrier frequencies for hemoglobinopathies in southern China. See Variant Summary counts for nstd143 in dbVar Variant Summary.

Links

Source: NCBI

Detailed Information: Download 18 Variant Regions, Download 18 Variant Calls, Download Both, FTP

Variant Summary
Samplesets
Experimental Details
Validations

Variant Summary

Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Submitted: GRCh37 (hg19)

Variant Summary for:

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000011.10	Chr11	4	4	Remapped	NC_000011.10
NC_000016.10	Chr16	14	14	Remapped	NC_000016.10

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000011.9	Chr11	4	4	Submitted	NC_000011.9
NC_000016.9	Chr16	14	14	Submitted	NC_000016.9

Remapping summary:

			Variant Region remap status						Variant Call remap status
Sequence ID	Chr	Variant Regions on source	Perfect	Good	Pass	Fail	Mult	Variant Calls on source	Perfect	Good	Pass	Fail	Mult
NC_000011.9	Chr11	4	4	0	0	0	0	4	4	0	0	0	0
NC_000016.9	Chr16	14	8	6	0	0	0	14	8	6	0	0	0

Samplesets

Number of Samplesets: 1

Name:: Chinese
Size:: 22,260
Organisms:: Homo sapiens
Sampleset Phenotype(s):: None reported

Samples for sampleset 1 (displaying 100 of the 22260 samples)
Sample ID	Subject ID	Ethnicity	Subject Phenotype
HNQH-0011-A	HNQH-0011-A	Chinese	Not reported
DP16B100007	DP16B100007	Chinese	Not reported
15D6646608	15D6646608	Chinese	Not reported
15B6649591	15B6649591	Chinese	Not reported
D88487	D88487	Chinese	Not reported
14D1012838	14D1012838	Chinese	Not reported
15D6646606	15D6646606	Chinese	Not reported
GZ-2171-F	GZ-2171-F	Chinese	Not reported
DP16B100013	DP16B100013	Chinese	Not reported
DP16B100002	DP16B100002	Chinese	Not reported
CX-0182-F	CX-0182-F	Chinese	Not reported
DP16B100001	DP16B100001	Chinese	Not reported
NN-0795-M	NN-0795-M	Chinese	Not reported
D47778	D47778	Chinese	Not reported
DP16B100003	DP16B100003	Chinese	Not reported
FS-0100-M	FS-0100-M	Chinese	Not reported
DGJS-0199-F	DGJS-0199-F	Chinese	Not reported
T56-1	T56-1	Chinese	Not reported
T68-2	T68-2	Chinese	Not reported
DGJS-0351-F	DGJS-0351-F	Chinese	Not reported

Experimental Details

Experiment ID	Type	Method	Analysis	Number of Variant Calls
1	Discovery	Sequencing	Read depth and paired-end mapping	18

dbVar

Database of genomic structural variation

nstd143 (Shang et al. 2017)

Links

Detailed Information: Download 18 Variant Regions, Download 18 Variant Calls, Download Both, FTP

Variant Summary

Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Submitted: GRCh37 (hg19)

Variant Summary for:

Remapping summary:

Samplesets

Number of Samplesets: 1

Experimental Details

Validations

No validation data were submitted for this study.

dbVar

Database of genomic structural variation

nstd143 (Shang et al. 2017)

Links

Detailed Information: Download 18 Variant Regions, Download 18 Variant Calls, Download Both, FTP

Variant Summary

Variant Summary for: GRCh38.p12 (hg38)GRCh37 (hg19)

Remapping summary: GRCh37->GRCh38.p12

Samplesets

Number of Samplesets: 1

Experimental Details

Validations

No validation data were submitted for this study.

Variant Summary for:

Remapping summary: