A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4491502



Internal ID20221549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:29734092..29734093hg38UCSC Ensembl
chr8:29591608..29591609hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16078029
Samples
Known GenesLINC00589
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)nsv4491502
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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