A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15897929



Internal ID19969869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:17255947..17257126hg38UCSC Ensembl
chr5:17256056..17257235hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg381180
hg191180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4120388
Supporting Variants
Samples
Known GenesBASP1
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)nssv15897929
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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