A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15830706



Internal ID19902792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67787163..67802531hg38UCSC Ensembl
chr16:67821066..67836434hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3815369
hg1915369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4234106
Supporting Variants
Samples
Known GenesRANBP10
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)nssv15830706
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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