A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4494336



Internal ID20224388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:147291334..147291335hg38UCSC Ensembl
chr6:147612470..147612471hg19UCSC Ensembl
Cytoband6q24.3
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 Variantsnssv16071457
Samples
Known GenesSTXBP5
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)nsv4494336
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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