A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4238575



Internal ID20436555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:59344172..59345310hg38UCSC Ensembl
chr15:59636371..59637509hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg381139
hg191139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15826119
Samples
Known GenesMYO1E
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)nsv4238575
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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