A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15804239



Internal ID19529639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:113695433..113698355hg38UCSC Ensembl
chr11:113566155..113569077hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg382923
hg192923
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4208771
Supporting Variants
Samples
Known GenesTMPRSS5
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)nssv15804239
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