A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15788353



Internal ID19860391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:9166325..9274977hg38UCSC Ensembl
chr16:9260182..9368834hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38108653
hg19108653
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4334645
Supporting Variants
Samples
Known GenesMIR548X
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)nssv15788353
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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