A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4561014



Internal ID20290898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:189828182..189831933hg38UCSC Ensembl
chr3:189545971..189549722hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg383752
hg193752
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15789991
Samples
Known GenesMIR944, TP63
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4561014
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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