A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15888711



Internal ID19960651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:25913136..25929557hg38UCSC Ensembl
chr4:25914758..25931179hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3816422
hg1916422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4105457
Supporting Variants
Samples
Known GenesSMIM20
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)nssv15888711
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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