A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15970039



Internal ID19695293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217739513..217828281hg38UCSC Ensembl
chr2:218604236..218693004hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3888769
hg1988769
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4080955
Supporting Variants
Samples
Known GenesDIRC3, TNS1
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)nssv15970039
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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