A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4522591



Internal ID19906021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16662227..16662297hg38UCSC Ensembl
chr5:16662336..16662406hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15976645
Samples
Known GenesMYO10
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)nsv4522591
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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