A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4191335



Internal ID20056194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:58505616..58553097hg38UCSC Ensembl
chr10:60265376..60312857hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3847482
hg1947482
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15947954
Samples
Known GenesBICC1
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)nsv4191335
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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