A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15840443



Internal ID19565843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:62725123..62726951hg38UCSC Ensembl
chr18:60392356..60394184hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg381829
hg191829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4263833
Supporting Variants
Samples
Known GenesPHLPP1
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 ID12345678
Accession Number(s)nssv15840443
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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