A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4208031



Internal ID20414991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:132754357..132848643hg38UCSC Ensembl
chr10:134567861..134662147hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3894287
hg1994287
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15947581
Samples
Known GenesINPP5A, NKX6-2, TTC40
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)nsv4208031
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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