A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2674n166



Internal ID20168102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:506322..842417hg38UCSC Ensembl
chr9:506322..842417hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38336096
hg19336096
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4156148, nsv4161337
Samples
Known GenesDMRT1, KANK1
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)dgv2674n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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