A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4175725



Internal ID20045054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:108741362..108912327hg38UCSC Ensembl
chr9:111503642..111674607hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38170966
hg19170966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15986504
Samples
Known GenesACTL7A, ACTL7B, IKBKAP
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 ID12345678
Accession Number(s)nsv4175725
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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