A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15866187



Internal ID19591441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20690925..20693030hg38UCSC Ensembl
chr2:20890685..20892790hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg382106
hg192106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4065193
Supporting Variants
Samples
Known GenesC2orf43
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)nssv15866187
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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