A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4484793



Internal ID20214837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:24411281..24411282hg38UCSC Ensembl
chr10:24700210..24700211hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15992046
Samples
Known GenesKIAA1217
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)nsv4484793
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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