A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4173879



Internal ID20043760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127859627..127883312hg38UCSC Ensembl
chr9:130621906..130645591hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3823686
hg1923686
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15987199
Samples
Known GenesAK1, MIR4672
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)nsv4173879
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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