A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4242321



Internal ID20439055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68602421..68609972hg38UCSC Ensembl
chr16:68636324..68643875hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg387552
hg197552
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv905n166
Supporting Variantsnssv15829393
Samples
Known Genes
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)nsv4242321
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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