A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4288459



Internal ID20120129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:32063376..32066543hg38UCSC Ensembl
chr20:30651179..30654346hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg383168
hg193168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15860334
Samples
Known GenesHCK
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)nsv4288459
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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