A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15899317



Internal ID19971257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:10233566..10233637hg38UCSC Ensembl
chr5:10233678..10233749hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4522617
Supporting Variants
Samples
Known GenesFAM173B
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)nssv15899317
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.009135


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