A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15898426



Internal ID19970366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:15000..140985hg38UCSC Ensembl
chr5:15000..141100hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38125986
hg19126101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4522990
Supporting Variants
Samples
Known GenesPLEKHG4B
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)nssv15898426
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000463


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