A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15973863



Internal ID19699117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113652945..113655959hg38UCSC Ensembl
chr3:113371792..113374806hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg383015
hg193015
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4520952
Supporting Variants
Samples
Known GenesKIAA2018
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)nssv15973863
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000415


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