A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15903317



Internal ID19975257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:110719153..110720315hg38UCSC Ensembl
chr5:110054854..110056016hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg381163
hg191163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4118545
Supporting Variants
Samples
Known GenesTMEM232
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)nssv15903317
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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