A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15890054



Internal ID19615308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:25191193..25195547hg38UCSC Ensembl
chr4:25192815..25197169hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg384355
hg194355
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4094547
Supporting Variants
Samples
Known GenesSEPSECS-AS1
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)nssv15890054
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001567


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