A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4091423



Internal ID20330629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178276263..178282373hg38UCSC Ensembl
chr2:179140990..179147100hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg386111
hg196111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15873794
Samples
Known GenesOSBPL6
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)nsv4091423
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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