A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4227706



Internal ID20082312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:94607234..94607352hg38UCSC Ensembl
chr13:95259488..95259606hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15955334
Samples
Known GenesGPR180
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)nsv4227706
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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