A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15789258



Internal ID19514621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49505728..49589575hg38UCSC Ensembl
chr20:48122265..48206112hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3883848
hg1983848
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4340111
Supporting Variants
Samples
Known GenesPTGIS
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15789258
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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