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dbVar

Database of genomic structural variation

nstd190 (Williams et al. 2020)

Organism:: Human
Study Type:: Control Set
Submitter:: Simon Williams
Description:: Calling deletions covering the full region of 15q11.2 in the UK Biobank cohort of ~500,000 individuals and determining the region's association with cardiovascular and neurodevelopmental phenotypes. See Variant Summary counts for nstd190 in dbVar Variant Summary.
Project:: PRJEB35772
Publication(s):: Williams et al. 2020

Links

Source: NCBI

Detailed Information: Download 241 Variant Regions, Download 241 Variant Calls, Download Both, FTP

Variant Summary
Samplesets
Experimental Details
Validations

Variant Summary

Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Submitted: GRCh37.p13 (hg19)

Variant Summary for:

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000015.10	Chr15	241	241	Remapped	NC_000015.10
NT_187603.1	Chr15\|NT_187603.1	75	75	Remapped	NT_187603.1
NW_011332701.1	Chr15\|NW_011332701.1	6	6	Remapped	NW_011332701.1

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_000015.9	Chr15	241	0	42	118	0	81	241	0	42	118	0	81

Samplesets

Number of Samplesets: 1

Size:: 3,212 (sample data not available)
Organisms:: Homo sapiens
Sampleset Phenotype(s):: None reported

Experimental Details

Experiment ID	Type	Method	Analysis	Platforms	Number of Variant Calls
1	Discovery	SNP array	SNP genotyping analysis	Affymetrix	241

Validations

No validation data were submitted for this study.

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