A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15818051



Internal ID19543451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:94464473..94467519hg38UCSC Ensembl
chr13:95116727..95119773hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg383047
hg193047
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4228450
Supporting Variants
Samples
Known GenesDCT
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)nssv15818051
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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