A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15969240



Internal ID19694494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:121394788..121689968hg38UCSC Ensembl
chr2:122152364..122447544hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38295181
hg19295181
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4085845
Supporting Variants
Samples
Known GenesCLASP1, NIFK-AS1, RNU4ATAC
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)nssv15969240
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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