A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4339257



Internal ID20187051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:35719529..35720479hg38UCSC Ensembl
chr13:36293666..36294616hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38951
hg19951
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15787931
Samples
Known GenesMIR548F5
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)nsv4339257
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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