A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15788276



Internal ID19860313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:66433275..66439195hg38UCSC Ensembl
chr15:66725613..66731533hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg385921
hg195921
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4564991
Supporting Variants
Samples
Known GenesMAP2K1
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)nssv15788276
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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