A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15792567



Internal ID19517964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:13110041..13120563hg38UCSC Ensembl
chr10:13152041..13162563hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3810523
hg1910523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4181562
Supporting Variants
Samples
Known GenesOPTN
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 ID12345678
Accession Number(s)nssv15792567
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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