A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15797104



Internal ID19869190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:94093743..94094240hg38UCSC Ensembl
chr10:95853500..95853997hg19UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg38498
hg19498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4527726
Supporting Variants
Samples
Known GenesPLCE1
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)nssv15797104
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.015768


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