A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4334786



Internal ID20186185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:68963915..68968194hg38UCSC Ensembl
chr14:69430632..69434911hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg384280
hg194280
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15788163
Samples
Known GenesACTN1
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)nsv4334786
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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