A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15880429



Internal ID19605684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49559217..49573859hg38UCSC Ensembl
chr3:49596650..49611292hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3814643
hg1914643
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4087122
Supporting Variants
Samples
Known GenesBSN
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)nssv15880429
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000142


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