A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4050466



Internal ID20176095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:60964423..61003511hg38UCSC Ensembl
chr9:39934900..39974000hg19UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg3839089
hg1939101
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15785100, nssv15785101, nssv15785102
Samples
Known Genes
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)nsv4050466
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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