A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4248307



Internal ID20443059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23348132..23355884hg38UCSC Ensembl
chr16:23359453..23367205hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg387753
hg197753
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15828604
Samples
Known GenesSCNN1B
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)nsv4248307
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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