A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15874604



Internal ID19599858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189037714..189039177hg38UCSC Ensembl
chr2:189902440..189903903hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg381464
hg191464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4088788
Supporting Variants
Samples
Known GenesCOL5A2
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)nssv15874604
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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