A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4126754



Internal ID20356345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:54015352..54521867hg38UCSC Ensembl
chr5:53311182..53817697hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38506516
hg19506516
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15976329
Samples
Known GenesARL15, HSPB3, SNX18
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)nsv4126754
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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