A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4226718



Internal ID20428295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:45175046..45460121hg38UCSC Ensembl
chr14:45644249..45929324hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38285076
hg19285076
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15821535
Samples
Known GenesFANCM, MIS18BP1
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)nsv4226718
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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