A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15956891



Internal ID20028831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:72551001..72722259hg38UCSC Ensembl
chr14:73017709..73188967hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38171259
hg19171259
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4215275
Supporting Variants
Samples
Known GenesDPF3, RGS6
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)nssv15956891
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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