A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1013n166



Internal ID22800912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74877333..74881651hg38UCSC Ensembl
chr17:72873462..72877781hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg384319
hg194320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4530923, nsv4257576
Samples
Known GenesFADS6
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)dgv1013n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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