A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4289348



Internal ID20467228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:22036488..22241012hg38UCSC Ensembl
chr21:23408807..23613332hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38204525
hg19204526
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15862265
Samples
Known GenesLINC00308
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)nsv4289348
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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