A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15888518



Internal ID19960458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183992289..183993373hg38UCSC Ensembl
chr3:183710077..183711161hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg381085
hg191085
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4099675
Supporting Variants
Samples
Known GenesABCC5
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)nssv15888518
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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