A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4526242



Internal ID20256361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:112839370..113016771hg38UCSC Ensembl
chr8:113851599..114029000hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38177402
hg19177402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15984366
Samples
Known GenesCSMD3
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)nsv4526242
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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