A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4250540



Internal ID20444532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1971807..1980740hg38UCSC Ensembl
chr17:1875101..1884034hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg388934
hg198934
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15833544
Samples
Known GenesRTN4RL1
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)nsv4250540
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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