A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4187118



Internal ID20053131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:21997897..22001268hg38UCSC Ensembl
chr9:21997896..22001267hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg383372
hg193372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15936157
Samples
Known GenesCDKN2B-AS1
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)nsv4187118
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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