A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15971667



Internal ID19696921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:156689939..156693988hg38UCSC Ensembl
chr3:156407728..156411777hg19UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg384050
hg194050
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4111666
Supporting Variants
Samples
Known GenesTIPARP
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)nssv15971667
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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