A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4120287



Internal ID20351822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:605073..763654hg38UCSC Ensembl
chr6:605073..763654hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38158582
hg19158582
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15977890
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 ID32461652
Accession Number(s)nsv4120287
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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