A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15971566



Internal ID20043506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:37089131..37161322hg38UCSC Ensembl
chr3:37130622..37202813hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg3872192
hg1972192
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4088104
Supporting Variants
Samples
Known GenesLRRFIP2
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)nssv15971566
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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