A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15787710



Internal ID19859738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:15691814..15696617hg38UCSC Ensembl
chr12:15844748..15849551hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg384804
hg194804
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4562660
Supporting Variants
Samples
Known GenesEPS8
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 ID32461652
Accession Number(s)nssv15787710
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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