A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4271634



Internal ID20459235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13465825..13466867hg38UCSC Ensembl
chr18:13465824..13466866hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381043
hg191043
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15838176
Samples
Known GenesLDLRAD4
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)nsv4271634
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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