A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv988n166



Internal ID22800887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45941588..45941751hg38UCSC Ensembl
chr17:44018954..44019117hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38164
hg19164
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4262412, nsv4269758
Samples
Known GenesMAPT
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)dgv988n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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