A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4074974



Internal ID20318551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:56303786..56308663hg38UCSC Ensembl
chr3:56337814..56342691hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg384878
hg194878
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15972473
Samples
Known GenesERC2
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)nsv4074974
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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