A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4138135



Internal ID20364475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:68693108..68698108hg38UCSC Ensembl
chr6:69403000..69408000hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg385001
hg195001
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15978955, nssv15910075
Samples
Known GenesBAI3
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
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4138135
Frequency
Sample Size10847
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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