A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4558495



Internal ID20288375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:48520617..48520618hg38UCSC Ensembl
chr15:48812814..48812815hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38784
hg19784
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16010772
Samples
Known GenesFBN1
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)nsv4558495
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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