A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4529368



Internal ID20259487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:78769954..78770684hg38UCSC Ensembl
chr14:79236297..79237027hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38731
hg19731
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15822878
Samples
Known GenesNRXN3
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)nsv4529368
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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