A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15825876



Internal ID19897962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:43176583..43178127hg38UCSC Ensembl
chr15:43468781..43470325hg19UCSC Ensembl
Cytoband15q15.2
Allele length
AssemblyAllele length
hg381545
hg191545
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4236548
Supporting Variants
Samples
Known GenesTMEM62
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)nssv15825876
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0059


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