A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4205588



Internal ID20066522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69353706..69363292hg38UCSC Ensembl
chr12:69747486..69757072hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg389587
hg199587
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15948656
Samples
Known GenesLYZ, YEATS4
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)nsv4205588
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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