A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15928629



Internal ID20000569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53341940..53372440hg38UCSC Ensembl
chr8:54254500..54285000hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3830501
hg1930501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4159620
Supporting Variants
Samples
Known Genes
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)nssv15928629
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000141


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