A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15880363



Internal ID19952303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48548367..48549084hg38UCSC Ensembl
chr3:48585800..48586517hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38718
hg19718
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4087283
Supporting Variants
Samples
Known GenesPFKFB4
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)nssv15880363
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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