A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4558099



Internal ID20287978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23103203..23117394hg38UCSC Ensembl
chr1:23429696..23443887hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3814192
hg1914192
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15789131
Samples
Known GenesLUZP1
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4558099
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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