A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv196n166



Internal ID20165624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:245522024..246545045hg38UCSC Ensembl
chr1:245685326..246708347hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381023022
hg191023022
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4071065, nsv4070635
Samples
Known GenesKIF26B, LOC255654, SMYD3, TFB2M
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)dgv196n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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