A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4575520



Internal ID20305395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53760205..53760206hg38UCSC Ensembl
chr16:53794117..53794118hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg381235
hg191235
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16015261
Samples
Known GenesFTO
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)nsv4575520
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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