A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4132989



Internal ID20360751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:64996186..65171101hg38UCSC Ensembl
chr6:65706079..65880994hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38174916
hg19174916
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15911103
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)nsv4132989
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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