A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4543818



Internal ID20273693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:40895374..40895375hg38UCSC Ensembl
chr15:41187572..41187573hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg38405
hg19405
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16011321
Samples
Known GenesVPS18
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)nsv4543818
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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