A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15955611



Internal ID20027551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75483102..75539102hg38UCSC Ensembl
chr16:75517000..75573000hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3856001
hg1956001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4241308
Supporting Variants
Samples
Known GenesCHST5, CHST6, TMEM231
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)nssv15955611
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.008027


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