A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4116282



Internal ID20348993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139429732..139435790hg38UCSC Ensembl
chr5:138765421..138771479hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg386059
hg196059
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15905963
Samples
Known GenesDNAJC18
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)nsv4116282
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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