A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4157713



Internal ID20378702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:25359224..25361880hg38UCSC Ensembl
chr8:25216740..25219396hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg382657
hg192657
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15929576
Samples
Known GenesDOCK5
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)nsv4157713
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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