A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16013408



Internal ID20085364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:89479101..89479102hg38UCSC Ensembl
chr15:90022332..90022333hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4552877
Supporting Variants
Samples
Known GenesRHCG
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)nssv16013408
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.171128


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