A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4233145



Internal ID20086209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:72114659..72119659hg38UCSC Ensembl
chr15:72407000..72412000hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg385001
hg195001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15956823
Samples
Known GenesMYO9A, SENP8
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)nsv4233145
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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