A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4068680



Internal ID20313970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31238073..31243794hg38UCSC Ensembl
chr2:31460939..31466660hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg385722
hg195722
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15868770
Samples
Known GenesEHD3
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)nsv4068680
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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