A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15827134



Internal ID19552534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:11829382..11861969hg38UCSC Ensembl
chr16:11923239..11955826hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg3832588
hg1932588
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4246929
Supporting Variants
Samples
Known GenesRSL1D1
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)nssv15827134
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000051


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