A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4518597



Internal ID19902027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:1322727..1419528hg38UCSC Ensembl
chr2:1326499..1423300hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3896802
hg1996802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1217n166
Supporting Variantsnssv15967093
Samples
Known GenesSNTG2, TPO
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)nsv4518597
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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