A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv201n166



Internal ID20165629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247796651..248623796hg38UCSC Ensembl
chr1:247959953..248787097hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38827146
hg19827145
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4058397, nsv4063887
Samples
Known GenesOR11L1, OR14A16, OR14C36, OR2AK2, OR2G6, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T12, OR2T2, OR2T29, OR2T3, OR2T33, OR2T34, OR2T4, OR2T5, OR2T6, OR2T8, OR2W3, TRIM58
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)dgv201n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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