A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4091753



Internal ID20330875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:93945223..93961080hg38UCSC Ensembl
chr3:93664067..93679924hg19UCSC Ensembl
Cytoband3q11.1
Allele length
AssemblyAllele length
hg3815858
hg1915858
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15972675
Samples
Known GenesPROS1
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)nsv4091753
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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