A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4341933



Internal ID20187601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3011878..3038479hg38UCSC Ensembl
chr12:3121044..3147645hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3826602
hg1926602
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15787688
Samples
Known GenesTEAD4
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)nsv4341933
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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