A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4084824



Internal ID19979131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123216553..123283632hg38UCSC Ensembl
chr3:122935400..123002479hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg3867080
hg1967080
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15973944
Samples
Known GenesADCY5, SEC22A
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)nsv4084824
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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