A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4142453



Internal ID20367627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131578103..131578279hg38UCSC Ensembl
chr6:131899243..131899419hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15915675
Samples
Known GenesARG1, MED23
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)nsv4142453
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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