A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4253397



Internal ID20446474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:83090337..83149239hg38UCSC Ensembl
chr17:81048266..81097008hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3858903
hg1948743
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15958728
Samples
Known GenesMETRNL
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)nsv4253397
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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