A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16043314



Internal ID19768568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216040078..216040079hg38UCSC Ensembl
chr2:216904801..216904802hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4553882
Supporting Variants
Samples
Known GenesPECR
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)nssv16043314
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001706


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