A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15864086



Internal ID19936026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44310747..44317909hg38UCSC Ensembl
chr21:45730630..45737792hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg387163
hg197163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4276300
Supporting Variants
Samples
Known GenesPFKL
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)nssv15864086
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000277


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