A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15904301



Internal ID19976241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149919204..149924108hg38UCSC Ensembl
chr5:149298767..149303671hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg384905
hg194905
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4122621
Supporting Variants
Samples
Known GenesPDE6A
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)nssv15904301
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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