A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4339210



Internal ID20187042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:103166044..103167560hg38UCSC Ensembl
chr4:104087201..104088717hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg381517
hg191517
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15790277
Samples
Known GenesCENPE
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)nsv4339210
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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