A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4189803



Internal ID20401789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:129855203..130025276hg38UCSC Ensembl
chr9:132617482..132787555hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38170074
hg19170074
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2804n166
Supporting Variantsnssv15985979
Samples
Known GenesFNBP1, MIR6855, USP20
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)nsv4189803
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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