A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16010673



Internal ID20082629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:38534388..38534389hg38UCSC Ensembl
chr15:38826589..38826590hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4554768
Supporting Variants
Samples
Known GenesRASGRP1
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 ID32461652
Accession Number(s)nssv16010673
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003603


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