A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15972266



Internal ID20044206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129099597..129101101hg38UCSC Ensembl
chr3:128818440..128819944hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg381505
hg191505
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4108286
Supporting Variants
Samples
Known GenesISY1-RAB43, RAB43
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)nssv15972266
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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