A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv325n166



Internal ID20165753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:5153221..5242752hg38UCSC Ensembl
chr11:5174451..5263982hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3889532
hg1989532
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4196595, nsv4209569, nsv4207708
Samples
Known GenesHBB, HBBP1, HBD, OR51V1
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)dgv325n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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