A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4074935



Internal ID20318522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:3995305..4240992hg38UCSC Ensembl
chr3:4036989..4282676hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38245688
hg19245688
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1590n166
Supporting Variantsnssv15876526
Samples
Known Genes
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)nsv4074935
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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