A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15842279



Internal ID19567679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6494523..6494684hg38UCSC Ensembl
chr19:6494534..6494695hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4533723
Supporting Variants
Samples
Known GenesTUBB4A
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 ID12345678
Accession Number(s)nssv15842279
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.005217


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