A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4121590



Internal ID20352731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172158403..172164041hg38UCSC Ensembl
chr5:171585407..171591045hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg385639
hg195639
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15977785
Samples
Known GenesSTK10
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)nsv4121590
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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