A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15975374



Internal ID19700628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178408171..178917086hg38UCSC Ensembl
chr5:177835172..178344087hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38508916
hg19508916
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4523465
Supporting Variants
Samples
Known GenesAACSP1, CLK4, COL23A1, ZFP2, ZNF354A, ZNF354B
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 ID12345678
Accession Number(s)nssv15975374
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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