A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15816154



Internal ID19888240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:35718363..35719188hg38UCSC Ensembl
chr13:36292500..36293325hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38826
hg19826
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4230558
Supporting Variants
Samples
Known GenesMIR548F5
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 ID32461652
Accession Number(s)nssv15816154
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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