A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15900782



Internal ID19626036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:36050975..36055027hg38UCSC Ensembl
chr5:36051077..36055129hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg384053
hg194053
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4130512
Supporting Variants
Samples
Known GenesUGT3A2
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)nssv15900782
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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