A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4255861



Internal ID20101492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:68019035..68865986hg38UCSC Ensembl
chr18:65686272..66533223hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38846952
hg19846952
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15960804
Samples
Known GenesCCDC102B, TMX3
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)nsv4255861
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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