A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15867657



Internal ID19592911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53870516..53871342hg38UCSC Ensembl
chr2:54097653..54098479hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38827
hg19827
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4071827
Supporting Variants
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 ID12345678
Accession Number(s)nssv15867657
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000691


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