A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4066606



Internal ID20312458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53952331..53954068hg38UCSC Ensembl
chr2:54179468..54181205hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg381738
hg191738
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15868216
Samples
Known GenesPSME4
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)nsv4066606
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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