A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4077226



Internal ID20320211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:56904498..56907042hg38UCSC Ensembl
chr3:56938526..56941070hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg382545
hg192545
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15878269
Samples
Known GenesARHGEF3
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)nsv4077226
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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