A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4213109



Internal ID20418666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70579095..70583511hg38UCSC Ensembl
chr14:71045812..71050228hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg384417
hg194417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15819805
Samples
Known GenesMED6
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)nsv4213109
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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