A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15902845



Internal ID19974785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132569622..132571044hg38UCSC Ensembl
chr5:131905314..131906736hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381423
hg191423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4131734
Supporting Variants
Samples
Known GenesRAD50
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)nssv15902845
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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