A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4137079



Internal ID20363700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:132054035..132057761hg38UCSC Ensembl
chr6:132375175..132378901hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg383727
hg193727
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2190n166
Supporting Variantsnssv15915703
Samples
Known Genes
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)nsv4137079
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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