A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4191608



Internal ID20056402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:115088248..115842989hg38UCSC Ensembl
chr9:117850527..118605268hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg38754742
hg19754742
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2788n166
Supporting Variantsnssv15987317
Samples
Known GenesDEC1, TNC
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 ID12345678
Accession Number(s)nsv4191608
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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