A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1000n166



Internal ID20166428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:61041078..61051431hg38UCSC Ensembl
chr17:59118439..59128792hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3810354
hg1910354
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4271590, nsv4255400
Samples
Known GenesBCAS3
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)dgv1000n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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