A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4333522



Internal ID19839271
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 StatusM
Merged Variants
Supporting Variantsnssv15789459
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)nsv4333522
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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