A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4130339



Internal ID20012208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12039159..12255228hg38UCSC Ensembl
chr6:12039392..12255461hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg38216070
hg19216070
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15978009
Samples
Known GenesHIVEP1
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)nsv4130339
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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