A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15896258



Internal ID19968198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:156832404..156846811hg38UCSC Ensembl
chr4:157753556..157767963hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg3814408
hg1914408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4096903
Supporting Variants
Samples
Known GenesPDGFC
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)nssv15896258
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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