A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4142919



Internal ID20367947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:35070191..35084133hg38UCSC Ensembl
chr7:35109803..35123745hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg3813943
hg1913943
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15980882
Samples
Known GenesDPY19L2P1
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 ID32461652
Accession Number(s)nsv4142919
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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