A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4096015



Internal ID20334087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:186884674..186995381hg38UCSC Ensembl
chr3:186602463..186713169hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38110708
hg19110707
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1735n166
Supporting Variantsnssv15970116
Samples
Known GenesST6GAL1
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)nsv4096015
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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