A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15789276



Internal ID19514639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58317725..58327195hg38UCSC Ensembl
chr20:56892781..56902251hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg389471
hg199471
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4563338
Supporting Variants
Samples
Known GenesRAB22A
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15789276
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer