A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4066015



Internal ID20312034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54912168..54913348hg38UCSC Ensembl
chr2:55139305..55140485hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg381181
hg191181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15868297
Samples
Known GenesEML6
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)nsv4066015
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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