A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15970082



Internal ID20042022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185314212..185327312hg38UCSC Ensembl
chr3:185032000..185045100hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg3813101
hg1913101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4108571
Supporting Variants
Samples
Known GenesMAP3K13
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)nssv15970082
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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