A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15903390



Internal ID19975330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115845107..115845846hg38UCSC Ensembl
chr5:115180804..115181543hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38740
hg19740
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4127136
Supporting Variants
Samples
Known GenesAP3S1
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)nssv15903390
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000047


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