A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4522786



Internal ID19906216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41943080..41960364hg38UCSC Ensembl
chr6:41910818..41928102hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3817285
hg1917285
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2121n166
Supporting Variantsnssv15978829
Samples
Known GenesCCND3
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)nsv4522786
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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