A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15854190



Internal ID19926130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:88792151..88794097hg38UCSC Ensembl
chr1:89257834..89259780hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg381947
hg191947
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4068899
Supporting Variants
Samples
Known GenesPKN2
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)nssv15854190
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000415


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