A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4500983



Internal ID20231047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:32089136..32089137hg38UCSC Ensembl
chr14:32558342..32558343hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16008646
Samples
Known GenesARHGAP5
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)nsv4500983
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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