A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15819399



Internal ID19891485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:31335542..31336255hg38UCSC Ensembl
chr14:31804748..31805461hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38714
hg19714
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4225741
Supporting Variants
Samples
Known GenesHEATR5A
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)nssv15819399
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00014


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