A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15977864



Internal ID20049804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181099000..181169000hg38UCSC Ensembl
chr5:180526000..180596000hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3870001
hg1970001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4128701
Supporting Variants
Samples
Known GenesOR2V1, OR2V2
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)nssv15977864
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000186


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