A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4532016



Internal ID19915447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31658678..31980079hg38UCSC Ensembl
chr16:31669999..31991400hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38321402
hg19321402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15954192
Samples
Known GenesCLUHP3, ZNF267, ZNF720
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 ID12345678
Accession Number(s)nsv4532016
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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