A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15955599



Internal ID20027539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75013434..75051604hg38UCSC Ensembl
chr16:75047332..75085502hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3838171
hg1938171
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4246595
Supporting Variants
Samples
Known GenesZNRF1
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)nssv15955599
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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