A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15974343



Internal ID20046283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:331878..478650hg38UCSC Ensembl
chr5:331993..478765hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38146773
hg19146773
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4123356
Supporting Variants
Samples
Known GenesAHRR, C5orf55, EXOC3, PP7080, SLC9A3
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)nssv15974343
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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