A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4076923



Internal ID20319987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47191111..47207468hg38UCSC Ensembl
chr3:47232601..47248958hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3816358
hg1916358
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15970610
Samples
Known GenesKIF9-AS1
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)nsv4076923
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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