dbVar Common Struct Var dbVar Conflict SV Track Settings
 
NCBI dbVar Curated Conflict Variants

Track collection: NCBI Curated Common Structural Variants from dbVar

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 dbVar Curated Conflict SVs  NCBI dbVar Curated Common SVs: Conflicts with Pathogenic   Data format 
Assembly: Human Dec. 2013 (GRCh38/hg38)

Description

The track NCBI dbVar Curated Common SVs: Conflicts with Pathogenic highlights loci where common copy number variants from nstd186 (NCBI Curated Common Structural Variants) overlap with structural Variants with clinical assertions, submitted to ClinVar by external labs (Clinical Structural Variants - nstd102).

Overlap in the track refers to reciprocal overlap between variants in the common (NCBI Curated Common Structural Variants) versus clinical (ClinVar Long Variants) tracks. Reciprocal overlap values can be anywhere from 10% to 100%.

For more information on the number of variant calls and latest statistics for nstd186 see Summary of nstd186 (NCBI Curated Common Structural Variants).

Display Conventions and Configuration

Items in all subtracks follow the same conventions: items are colored by variant type, and are based on the dbVar colors described in the dbVar Overview page. Red for copy number loss or deletion, blue for copy number gain or duplication, and violet for copy number variation.

Mouseover on items indicates genes affected, size, variant type, and allele frequencies (AF). All tracks can be filtered according to the variant length, variant type and variant overlap. This last filter defines four bins within that range from which the user can choose.

Data Access

The raw data can be explored interactively with the Table Browser, or the Data Integrator. For automated analysis, the data may be queried from our REST API.

The data can also be found directly from the dbVar nstd186 data access, as well as in the dbVar Track Hub, where additional subtracks are included. For questions about dbVar track data, please contact dbvar@ncbi. nlm. nih. gov.

Thanks to the dbVAR team at NCBI, especially John Lopez and Timothy Hefferon for technical coordination and consultation, and to Christopher Lee, Anna Benet-Pages, and Daniel Schmelter of the Genome Browser team for engineering the track display.

References

Lappalainen I, Lopez J, Skipper L, Hefferon T, Spalding JD, Garner J, Chen C, Maguire M, Corbett M, Zhou G et al. DbVar and DGVa: public archives for genomic structural variation. Nucleic Acids Res. 2013 Jan;41(Database issue):D936-41. PMID: 23193291; PMC: PMC3531204