A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4083558



Internal ID19978187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4023866..4313333hg38UCSC Ensembl
chr3:4065550..4355017hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38289468
hg19289468
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15876531
Samples
Known GenesSETMAR
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)nsv4083558
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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