A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4508687



Internal ID20238781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:33641272..33641273hg38UCSC Ensembl
chr14:34110478..34110479hg19UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16008658
Samples
Known GenesNPAS3
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)nsv4508687
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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