A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4567986



Internal ID20297869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:35226912..35226913hg38UCSC Ensembl
chr9:35226909..35226910hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg382065
hg192065
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16085057
Samples
Known GenesUNC13B
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)nsv4567986
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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