A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15792982



Internal ID19865065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:22670105..22678183hg38UCSC Ensembl
chr10:22959034..22967112hg19UCSC Ensembl
Cytoband10p12.2
Allele length
AssemblyAllele length
hg388079
hg198079
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4191633
Supporting Variants
Samples
Known GenesPIP4K2A
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)nssv15792982
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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