nstd201 - Favilla et al 2021 - dbVar Study

nstd201 (Favilla et al. 2021)

Organism:: Human
Study Type:: Case-Set
Submitter:: Bianca Favilla
Description:: Our study characterized the clinical impact of unbalanced X-autosome translocations. The SVs reported herein were SVs identified in three patients with unbalanced translocations, whose clinical features are related to the pathogenicity of the SVs and also the spread of X-chromosome inactivation into autosomal regions. See Variant Summary counts for nstd201 in dbVar Variant Summary.
Publication(s):: Favilla et al. 2021

Links

Source: NCBI

Detailed Information: Download 4 Variant Regions, Download 4 Variant Calls, Download Both, FTP

Variant Summary
Samplesets
Experimental Details
Validations

Variant Summary

Assembly used for analysis:
Remapped: GRCh38 (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_000013.11	Chr13	1	1	Remapped	NC_000013.11
NC_000023.11	ChrX	3	3	Remapped	NC_000023.11

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000013.10	Chr13	1	1	Submitted	NC_000013.10
NC_000023.10	ChrX	3	3	Submitted	NC_000023.10

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_000013.10	Chr13	1	0	1	0	0	0	1	0	1	0	0	0
NC_000023.10	ChrX	3	0	3	0	0	0	3	0	3	0	0	0

Samplesets

Number of Samplesets: 1

Description:: The sampleset is composed of three subjects with different unbalanced X-autossome translocations
Size:: 3
Organisms:: Homo sapiens
Sampleset Phenotype(s):: None reported

Samples for sampleset 1
Sample ID	Cell Type	Subject ID	Sex	Subject Age	Subject Phenotype
1	Peripheral leukocytes	1	Male	25 years	Not reported
2	Peripheral leukocytes	2	Female	12 years	Not reported
3	Peripheral leukocytes	3	Female	1 year	Not reported

Experimental Details

Experiment ID	Type	Method	Analysis	Platforms	Number of Variant Calls
1	Discovery	SNP array	Probe signal intensity	Affymetrix Genome-Wide Human SNP 6.0 Array	1
2	Discovery	Oligo aCGH	Probe signal intensity	Agilent CGH array SurePrint G3	1
3	Discovery	SNP array	Probe signal intensity	Affymetrix CytoScan HD Array	2

dbVar

Database of genomic structural variation

nstd201 (Favilla et al. 2021)

Links

Detailed Information: Download 4 Variant Regions, Download 4 Variant Calls, Download Both, FTP

Variant Summary

Assembly used for analysis:
Remapped: GRCh38 (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

nstd201 (Favilla et al. 2021)

Links

Detailed Information: Download 4 Variant Regions, Download 4 Variant Calls, Download Both, FTP

Variant Summary

Variant Summary for: GRCh38 (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: