A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4156787



Internal ID20031325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:33463482..33493482hg38UCSC Ensembl
chr8:33321000..33351000hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3830001
hg1930001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15984119
Samples
Known GenesFUT10, MAK16
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)nsv4156787
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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