A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4345351



Internal ID20188225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:105142205..105145771hg38UCSC Ensembl
chr6:105590080..105593646hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg383567
hg193567
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15790864
Samples
Known GenesBVES-AS1
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)nsv4345351
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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