A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4220977



Internal ID20424247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:90926061..90928573hg38UCSC Ensembl
chr14:91392405..91394917hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg382513
hg192513
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15822931
Samples
Known GenesRPS6KA5
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)nsv4220977
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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