A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15906324



Internal ID19978264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178321457..178325053hg38UCSC Ensembl
chr5:177748458..177752054hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg383597
hg193597
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4127381
Supporting Variants
Samples
Known GenesCOL23A1
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)nssv15906324
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000138


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