A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15972906



Internal ID20044846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:25857162..25869169hg38UCSC Ensembl
chr4:25858784..25870791hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3812008
hg1912008
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4107978
Supporting Variants
Samples
Known GenesSEL1L3
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)nssv15972906
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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