A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4532523



Internal ID20262642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:54928441..54943972hg38UCSC Ensembl
chr17:53005802..53021333hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3815532
hg1915532
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15835793
Samples
Known GenesTOM1L1
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)nsv4532523
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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