A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4190079



Internal ID20055300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:110338220..110394220hg38UCSC Ensembl
chr9:113100500..113156500hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg3856001
hg1956001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15986518
Samples
Known GenesSVEP1
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)nsv4190079
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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