A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15815215



Internal ID19540615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:89337154..89616359hg38UCSC Ensembl
chr13:89989408..90268613hg19UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg38279206
hg19279206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4218555
Supporting Variants
Samples
Known GenesLINC00353
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)nssv15815215
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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