A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4228516



Internal ID20429591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:85420363..85425894hg38UCSC Ensembl
chr13:85994498..86000029hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg385532
hg195532
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15814481
Samples
Known GenesLINC00351
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)nsv4228516
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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