A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15804972



Internal ID19877058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118020018..118033057hg38UCSC Ensembl
chr11:117890733..117903772hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3813040
hg1913040
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4206159
Supporting Variants
Samples
Known GenesTMPRSS4-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)nssv15804972
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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