A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15877069



Internal ID19949009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208164134..208189720hg38UCSC Ensembl
chr2:209028858..209054444hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3825587
hg1925587
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4090532
Supporting Variants
Samples
Known GenesC2orf80
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 ID32461652
Accession Number(s)nssv15877069
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000553


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