A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15864864



Internal ID19590118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28847230..28855708hg38UCSC Ensembl
chr2:29070096..29078574hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg388479
hg198479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4061869
Supporting Variants
Samples
Known GenesSPDYA, TRMT61B
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)nssv15864864
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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