A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4080180



Internal ID20322389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:41499573..41539726hg38UCSC Ensembl
chr3:41541064..41581217hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3840154
hg1940154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15879298
Samples
Known GenesULK4
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)nsv4080180
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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