A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4122231



Internal ID20006482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:488294..706309hg38UCSC Ensembl
chr6:488294..706309hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38218016
hg19218016
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15977887
Samples
Known GenesEXOC2, HUS1B
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 ID12345678
Accession Number(s)nsv4122231
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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