A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15826008



Internal ID19898094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:55342434..55343498hg38UCSC Ensembl
chr15:55634632..55635696hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg381065
hg191065
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4243115
Supporting Variants
Samples
Known GenesPIGB
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)nssv15826008
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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