A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4160876



Internal ID20380974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:54133817..54135228hg38UCSC Ensembl
chr8:55046377..55047788hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg381412
hg191412
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15928670
Samples
Known GenesMRPL15
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)nsv4160876
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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