A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4280616



Internal ID20463348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14638621..14643455hg38UCSC Ensembl
chr21:16010942..16015776hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg384835
hg194835
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15859357
Samples
Known GenesLOC388813
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)nsv4280616
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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