A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4052553



Internal ID20177550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:80486310..80488895hg38UCSC Ensembl
chr2:80713435..80716020hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg382586
hg192586
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15869492
Samples
Known GenesCTNNA2
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)nsv4052553
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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