A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15787285



Internal ID19512620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:11904399..11968576hg38UCSC Ensembl
chr10:11946398..12010575hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3864178
hg1964178
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4338713
Supporting Variants
Samples
Known GenesUPF2
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)nssv15787285
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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