A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4260660



Internal ID20104862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:521524..587552hg38UCSC Ensembl
chr19:521524..587552hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3866029
hg1966029
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15960170
Samples
Known GenesBSG, CDC34, GZMM
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)nsv4260660
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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