A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4190253



Internal ID20055424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:27136850..27139302hg38UCSC Ensembl
chr10:27425779..27428231hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg382453
hg192453
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15945919
Samples
Known GenesYME1L1
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)nsv4190253
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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