A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15976058



Internal ID19701312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:176321357..176323529hg38UCSC Ensembl
chr4:177242508..177244680hg19UCSC Ensembl
Cytoband4q34.2
Allele length
AssemblyAllele length
hg382173
hg192173
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4120809
Supporting Variants
Samples
Known GenesSPCS3
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)nssv15976058
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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