A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4096846



Internal ID20334699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129470157..129499157hg38UCSC Ensembl
chr3:129189000..129218000hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3829001
hg1929001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15972274
Samples
Known GenesIFT122
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)nsv4096846
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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