A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4341230



Internal ID20187460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:35915321..35926413hg38UCSC Ensembl
chr5:35915423..35926515hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3811093
hg1911093
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15790484
Samples
Known GenesCAPSL
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)nsv4341230
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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