A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4142410



Internal ID20367600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:64054342..64110696hg38UCSC Ensembl
chr6:64764235..64820589hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3856355
hg1956355
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15911054
Samples
Known GenesEYS
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)nsv4142410
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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