A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4282105



Internal ID20117322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:31456404..31731386hg38UCSC Ensembl
chr21:32828717..33103699hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38274983
hg19274983
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15964998
Samples
Known GenesSCAF4, SOD1, TIAM1
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)nsv4282105
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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