A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4140789



Internal ID20019730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:89362349..89364911hg38UCSC Ensembl
chr6:90072068..90074630hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg382563
hg192563
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15913263
Samples
Known GenesRRAGD
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)nsv4140789
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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