A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4528435



Internal ID20258554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:102785153..102785481hg38UCSC Ensembl
chr10:104544910..104545238hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv290n166
Supporting Variantsnssv15946791
Samples
Known GenesWBP1L
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)nsv4528435
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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