nstd182 - Al-Mubarak et al 2020 - dbVar Study

nstd182 (Al-Mubarak et al. 2020)

Organism:: Human
Study Type:: Case-Set
Submitter:: Bashayer Al-Mubarak
Description:: A trio molecular analysis of ADHD cases. The cases were surveyed for copy number variants (CNVs) in genes related to ADHD or overlapping phenotypes using CytoScanTM HD Suite. Targeted analysis of CNVs in the selected genes was performed using Chromosome Analysis Suite 3.0 (ChAS 3.0). Gains were defined as (log2 ratio of copy) values greater than 0.58 and losses as values less than -1. See Variant Summary counts for nstd182 in dbVar Variant Summary.
Publication(s):: Al-Mubarak et al. 2020

Links

Source: NCBI

Detailed Information: Download 5 Variant Regions, Download 5 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_000009.12	Chr9	2	2	Remapped	NC_000009.12
NC_000014.9	Chr14	1	1	Remapped	NC_000014.9
NC_000022.11	Chr22	2	2	Remapped	NC_000022.11
NW_015148969.1	Chr22\|NW_015148969.1	2	2	Remapped	NW_015148969.1

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000009.11	Chr9	2	2	Submitted	NC_000009.11
NC_000014.8	Chr14	1	1	Submitted	NC_000014.8
NC_000022.10	Chr22	2	2	Submitted	NC_000022.10

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_000009.11	Chr9	2	2	0	0	0	0	2	2	0	0	0	0
NC_000014.8	Chr14	1	1	0	0	0	0	1	1	0	0	0	0
NC_000022.10	Chr22	2	0	0	0	0	2	2	0	0	0	0	2

Samplesets

Number of Samplesets: 1

Name:: ADHD-Trio
Sampleset Type:: Case
Size:: 5
Organisms:: Homo sapiens
Sampleset Phenotype(s):: Attention deficit hyperactivity disorder

Samples for sampleset 1
Sample ID	Subject ID	Sex	Ethnicity	Subject Phenotype
ADHDF5	ADHDF5-P	Male	Arab; Saudi Arabia	Attention deficit hyperactivity disorder
ADHDF17	ADHDF17	Female	Arab; Saudi Arabia	Attention deficit hyperactivity disorder
ADHDF15	ADHDF15	Female	Arab; Saudi Arabia	Attention deficit hyperactivity disorder
ADHDF10	ADHDF10	Female	Arab; Saudi Arabia	Attention deficit hyperactivity disorder
ADHDF19	ADHDF19	Male	Arab; Saudi Arabia	Attention deficit hyperactivity disorder

Experimental Details

Experiment ID	Type	Method	Analysis	Number of Variant Calls
1	Genotyping	SNP array	Genotyping	5

dbVar

Database of genomic structural variation

nstd182 (Al-Mubarak et al. 2020)

Links

Detailed Information: Download 5 Variant Regions, Download 5 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

nstd182 (Al-Mubarak et al. 2020)

Links

Detailed Information: Download 5 Variant Regions, Download 5 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: