A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15789459



Internal ID19514824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:29787813..30070049hg38UCSC Ensembl
chr2:30010679..30292915hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38282237
hg19282237
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4333522
Supporting Variants
Samples
Known GenesALK
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15789459
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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