A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15816521



Internal ID19888607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78056993..78059867hg38UCSC Ensembl
chr13:78631128..78634002hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg382875
hg192875
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4217441
Supporting Variants
Samples
Known GenesRNF219-AS1
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
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv15816521
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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