A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4131084



Internal ID20359395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:15324009..15328146hg38UCSC Ensembl
chr6:15324240..15328377hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg384138
hg194138
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15978420
Samples
Known GenesJARID2
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)nsv4131084
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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