A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15787389



Internal ID19859412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:68584131..68606237hg38UCSC Ensembl
chr10:70343888..70365994hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg3822107
hg1922107
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4333207
Supporting Variants
Samples
Known GenesTET1
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)nssv15787389
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.003935


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