A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4339008



Internal ID20186994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30406257..30456643hg38UCSC Ensembl
chr8:30263773..30314159hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3850387
hg1950387
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15791328
Samples
Known GenesRBPMS
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)nsv4339008
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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