A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4234455



Internal ID20433774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:58510028..58580696hg38UCSC Ensembl
chr15:58802227..58872895hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg3870669
hg1970669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv797n166
Supporting Variantsnssv15826078
Samples
Known GenesLIPC
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)nsv4234455
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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