A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15948087



Internal ID19673341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118076058..118161781hg38UCSC Ensembl
chr11:117946773..118032496hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3885724
hg1985724
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4203639
Supporting Variants
Samples
Known GenesSCN4B, TMPRSS4, TMPRSS4-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 ID12345678
Accession Number(s)nssv15948087
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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