A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv960n166



Internal ID20166388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:11874074..12109821hg38UCSC Ensembl
chr17:11777391..12013138hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38235748
hg19235748
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4334900, nsv4336712
Samples
Known GenesDNAH9, MAP2K4, MIR744, ZNF18
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)dgv960n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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