A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15888579



Internal ID19613833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185094867..185098110hg38UCSC Ensembl
chr3:184812655..184815898hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg383244
hg193244
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4098506
Supporting Variants
Samples
Known GenesC3orf70
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)nssv15888579
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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