A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15859426



Internal ID19931366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:16149565..16150220hg38UCSC Ensembl
chr21:17521885..17522540hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38656
hg19656
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4534440
Supporting Variants
Samples
Known GenesLINC00478
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)nssv15859426
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.032328


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