A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2066n166



Internal ID22801965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139359427..139365266hg38UCSC Ensembl
chr5:138695116..138700955hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg385840
hg195840
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4128636, nsv4127267
Samples
Known GenesPAIP2
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)dgv2066n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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