A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15815539



Internal ID19540939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44467116..44514791hg38UCSC Ensembl
chr13:45041252..45088927hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3847676
hg1947676
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4214403
Supporting Variants
Samples
Known GenesTSC22D1
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)nssv15815539
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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