A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4237582



Internal ID20089195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66934711..66938169hg38UCSC Ensembl
chr16:66968614..66972072hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg383459
hg193459
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15830661
Samples
Known GenesCES2
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)nsv4237582
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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