A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4138297



Internal ID20364595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125077932..125078053hg38UCSC Ensembl
chr6:125399078..125399199hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15979193
Samples
Known GenesRNF217
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)nsv4138297
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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