A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4134887



Internal ID20015448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46577810..46583361hg38UCSC Ensembl
chr6:46545547..46551098hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg385552
hg195552
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15910355
Samples
Known GenesCYP39A1
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)nsv4134887
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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