A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4249667



Internal ID20097286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66505933..66510096hg38UCSC Ensembl
chr16:66539836..66543999hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg384164
hg194164
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15830639
Samples
Known GenesTK2
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)nsv4249667
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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