A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4173361



Internal ID20043367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:199960..417733hg38UCSC Ensembl
chr10:245900..463673hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38217774
hg19217774
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv207n166
Supporting Variantsnssv15945102
Samples
Known GenesDIP2C, ZMYND11
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)nsv4173361
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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