A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4280907



Internal ID20116788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14990211..14994762hg38UCSC Ensembl
chr21:16362532..16367083hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg384552
hg194552
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15859378
Samples
Known GenesNRIP1
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)nsv4280907
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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