A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4221505



Internal ID20424619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:94485708..94493269hg38UCSC Ensembl
chr14:94952045..94959606hg19UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg387562
hg197562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15822546
Samples
Known GenesSERPINA12
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)nsv4221505
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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