A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4107135



Internal ID19995665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:186790035..186919133hg38UCSC Ensembl
chr3:186507824..186636922hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38129099
hg19129099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1734n166
Supporting Variantsnssv15970111
Samples
Known GenesADIPOQ, ADIPOQ-AS1, RFC4
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)nsv4107135
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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