A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4076768



Internal ID20319868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4058844..4179990hg38UCSC Ensembl
chr3:4100528..4221674hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38121147
hg19121147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1595n166
Supporting Variantsnssv15876547
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)nsv4076768
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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