A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4334668



Internal ID20186160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88499040..88501556hg38UCSC Ensembl
chr14:88965384..88967900hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg382517
hg192517
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15788185
Samples
Known GenesPTPN21
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4334668
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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