A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4074034



Internal ID20317859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:114542173..114545445hg38UCSC Ensembl
chr3:114261020..114264292hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg383273
hg193273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15882869
Samples
Known GenesZBTB20
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)nsv4074034
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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