A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4191289



Internal ID20402849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:75051579..75075389hg38UCSC Ensembl
chr10:76811337..76835147hg19UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg3823811
hg1923811
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15951503
Samples
Known GenesDUPD1
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)nsv4191289
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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